Descemet stripping automated endothelial keratoplasty via a frown incision.

PURPOSE: To assess the outcomes of Descemet stripping automated endothelial keratoplasty (DSAEK) via a sclerocorneal frown incision. STUDY DESIGN: Retrospective comparative study. METHODS: The outcomes of Descement stripping endothelial keratoplasty (DSAEK) were retrospectively compared between 36 patients (36 eyes) who underwent surgery via a 3.8-mm frown incision (frown incision group) and 20 patients (20 eyes) who underwent surgery via a 4.6-mm straight incision (straight incision group). In all patients, an NS Endo-Inserter was used as the graft inserter and the incision for a frown incision was via the superior sclerocorneal site and for the straight incision via the temporal cornea. DSAEK was performed by the standard technique, except for the incision. At 1 year after surgery, the two groups were compared with respect to the visual acuity, decrease of corneal endothelial cell density, the severity of corneal astigmatism (diopters), the number of sutures for wound closure, and intraoperative/postoperative complications. RESULTS: There was no significant difference between the two groups in terms of postoperative visual acuity, corneal astigmatism, and intraoperative/postoperative complications one year after surgery. On the other hand, the number of sutures required for wound closure was 1.13 ± 0.42 in the frown incision group, whereas in the straight incision group, it was 3.20 ± 0.40, showing a significant difference (P<0.001). In addition, there was no decreased corneal endothelial cell density associated with the reduction in incision width. CONCLUSIONS: A sclerocorneal frown incision is useful for performing DSAEK with an NS Endo-Inserter as it does not affect endothelial cell loss despite its short incision width.

[PETERS ANOMALY AND PETERS PLUS SYNDROME].

INTRODUCTION: Peters anomaly is characterized by a defect in the development of the anterior segment of the eye during fetal development (Anterior segment dysgenesis). This anomaly presents a broad clinical presentation ranging from minimal peripheral corneal opacity to extensive adhesions of the iris and lens with dense central corneal opacity that impairs vision. Peters Plus Syndrome is a recessive autosomal syndrome manifested by Peters anomaly, along with systemic disorders such as brachydactyly (short fingers and toes), short stature, a developmental delay, dysmorphic facial features, and may accompanied with heart and genitourinary malformations. The most common sign of Peters' anomaly is corneal opacity that appears at birth. This opacity can cause blockage of the central visual axis and cause the development of a deprivational amblyopia. In addition, the patient may suffer from glaucoma due to malformations in the angle structures as well as a shallow anterior chamber. Treatments are aimed at clearing the central visual axis as soon as possible in order to allow the visual system to mature and to avoid the development of amblyopia. Full-thickness corneal transplantation combined with Cataract surgery if necessary is the current standard of care. Optical iridoplasty is a milder surgical alternative in cases where the corneal opacity is not significant.

Isolated traumatic aniridia with full and partial iris expulsion in pseudophakic eyes.

BACKGROUND: Total aniridia after ocular trauma without disruption of the intraocular lens (IOL) has been reported in patients with a history of small-incisional cataract surgery. We report one case each of total and partial aniridia after accidental falls experienced by two elderly Japanese women. CASE PRESENTATIONS: Case 1. A 76-year-old woman with a history of small-incisional cataract surgery more than 10 years previously fell onto concrete and had a contusion that affected the left side of her face. At the initial visit, the best-corrected visual acuity (BCVA) was hand motions and the intraocular pressure (IOP) was 38 mmHg in her left eye (OS). A blood clot was present in the well-formed anterior chamber and expulsed iris tissue was seen beneath the conjunctiva. Exploratory surgery showed no scleral laceration other than the previous sclerocorneal tunnel. After hyphema removal, total aniridia and an intact in-the-bag fixed IOL were seen. By 4 months, the BCVA was 1.2 and the IOP was 13 mmHg OS. CASE 2: An 88-year-old woman with a history of small-incisional cataract surgery more than 10 years previously had a fall that resulted in right-sided zygomatic and maxillary bone fractures. The BCVA was light perception and the IOP was 29 mmHg in her right eye (OD). Exploratory surgery showed no scleral laceration and the previous sclerocorneal tunnel was found; iris strand prolapsing from the sclerocorneal tunnel was seen. After hyphema removal, partial iris loss and an intact lens position were seen. By 1 week postoperatively, the BCVA was 0.05 OD and the IOP was 12 mmHg OD. CONCLUSIONS: It has been postulated that previously created small-incision tunnels can function as release valves during blunt trauma by preventing further global rupture and limiting IOL prolapse or retinal injury. Our cases suggested this can happen even long periods after cataract surgery. The case with partial aniridia demonstrated the process of the expulsive aniridia, and its findings do not contradict the postulated mechanisms.

Effect of depth of the sclerocorneal incision on postoperative corneal astigmatism in manual small-incision cataract surgery.

Purpose: To determine the effect of depth of scleral tunnel incision measured by anterior segment OCT on postoperative corneal astigmatism by comparing the change of magnitude of corneal astigmatism between superficial and deep sclerocorneal tunnel incision in manual small-incision cataract surgery (SICS). Methods: Depths of sclerocorneal incision of 72 eyes of patients undergoing uncomplicated manual SICS and attending regular follow-up schedule were assessed with anterior segment OCT at 6-week post-op follow-up. Results: The overall mean ± standard deviation (SD) change of astigmatism for superficial incision, that is, ≤399 µm, was 0.44 ± 0.30 and that for deeper, that is, ≥400 µm, was 0.13 ± 0.48 and the change was significantly higher in ≤399 µm group than in ≥400 µm group (P = 0.003). In both superior and temporal incision locations, the mean ± SD change of astigmatism for ≤399 µm incision was 0.48 ± 0.29 and 0.40 ± 0.30, respectively, and that for ≥400 µm was 0.03 ± 0.34 and 0.23 ± 0.57, respectively. The change of astigmatism was significantly higher in ≤399 µm incision group overall (P = 0.003) and also higher in both superior and temporal incision location groups (P = 0.001 and P = 0.479, respectively). Conclusion: The depth of sclerocorneal incision had a statistically significant effect on the change of astigmatism following manual SICS, with superficial incision (≤399 µm) causing a higher change than deeper incision (≥ 400 µm).

The Warburg Micro Syndrome-associated Rab3GAP-Rab18 module promotes autolysosome maturation through the Vps34 Complex I.

Warburg micro syndrome (WMS) is a hereditary autosomal neuromuscular disorder in humans caused by mutations in Rab18, Rab3GAP1, or Rab3GAP2 genes. Rab3GAP1/2 forms a heterodimeric complex, which acts as a guanosine nucleotide exchange factor and activates Rab18. Although the genetic causes of WMS are known, it is still unclear whether loss of the Rab3GAP-Rab18 module affects neuronal or muscle cell physiology or both, and how. In this work, we characterize a Rab3GAP2 mutant Drosophila line to establish a novel animal model for WMS. Similarly to symptoms of WMS, loss of Rab3GAP2 leads to highly decreased motility in Drosophila that becomes more serious with age. We demonstrate that these mutant flies are defective for autophagic degradation in multiple tissues including fat cells and muscles. Loss of Rab3GAP-Rab18 module members leads to perturbed autolysosome morphology due to destabilization of Rab7-positive autophagosomal and late endosomal compartments and perturbation of lysosomal biosynthetic transport. Importantly, overexpression of UVRAG or loss of Atg14, two alternative subunits of the Vps34/PI3K (vacuole protein sorting 34/phosphatidylinositol 3-kinase) complexes in fat cells, mimics the autophagic phenotype of Rab3GAP-Rab18 module loss. We find that GTP-bound Rab18 binds to Atg6/Beclin1, a permanent subunit of Vps34 complexes. Finally, we show that Rab3GAP2 and Rab18 are present on autophagosomal and autolysosomal membranes and colocalize with Vps34 Complex I subunits. Our data suggest that the Rab3GAP-Rab18 module regulates autolysosomal maturation through its interaction with the Vps34 Complex I, and perturbed autophagy due to loss of the Rab3GAP-Rab18 module may contribute to the development of WMS.

[Analysis of a case of Warburg micro syndrome type 1 due to variant of RAB3GAP1 gene].

OBJECTIVE: To explore the clinical and genetic characteristics of a child featuring developmental delay. METHODS: The child was subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: Whole genome sequencing revealed that the child has carried compound heterozygous variants c.2607-1G>C and c.899 + 2dupT of the RAB3GAP1 gene, which were respectively derived from her mother and father. CONCLUSION: A rare case of Warburg micro syndrome type 1 was diagnosed. The phenotype of the child was consistent with the literature, in addition with dysplasia of palatine arch, prominent high palatal arch and tooth dysplasia. Above finding has provided a basis for genetic counseling and prenatal diagnosis for the family.

Carcinoma epidermoide córneo-conjuntival. Presentación de un caso / Squamous cell, corneal-conjunctival carcinoma of. Case report

RESUMEN Se presentó el caso de un paciente masculino de 60 años, blanco, que fue atendido en la Consulta de Oftalmología, del Hospital "Dr. Mario Muñoz", del municipio de Colón, provincia de Matanzas. Refirió que llevaba aproximadamente 20 días, con sensación de cuerpo extraño en el ojo izquierdo, enrojecimiento, secreción constante, fotofobia y una lesión que le había aumentado de tamaño durante este período; la que se tornaba dolorosa durante el parpadeo. Se decidió realizar este trabajo con el objetivo de mostrar los beneficios obtenidos al concluir el tratamiento aplicado a este tipo de tumor (AU).

ABSTRACT The authors present the case of a white male patient, aged 60 years, who assisted the Consultation of Ophthalmology of the Hospital "Dr. Mario Muñoz", of the municipality of Colon. He referred feeling a foreign body in the left eye for already 20 days, presence of redness, constant secretion, photophobia and a lesion that had grown during that period, painful when blinking. The authors decided to write this article with the objective of showing the benefits obtained with the applied treatment in this kind of tumor (AU).

Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping.

Warburg micro syndrome (WARBM) is a rare autosomal recessive disorder characterized by microcephaly, cortical dysplasia, intellectual disability, ocular abnormalities, spastic diplegia, and microgenitalia. WARBM has 4 subtypes arising from pathogenic variants in 4 genes (RAB18, RAB3GAP1, RAB3GAP2, and TBC1D20). Here, we report on a patient with a homozygous pathogenic c.665delC (p.Pro222HisfsTer30) variant in the RAB3GAP1 gene identified by whole-exome sequencing (WES) analyses. Only his father was a heterozygous carrier, and homozygosity mapping analysis of the WES data revealed large loss-of-heterozygosity regions in both arms of chromosome 2, interpreted as uniparental isodisomy. This uniparental disomy pattern could be due to paternal meiosis I nondisjunction because of the preserved heterozygosity in the pericentromeric region. This report provides novel insights, including a rare form of UPD, usage of homozygosity mapping analysis for the evaluation of isodisomy, and the first reported case of WARBM1 as a result of uniparental isodisomy.

The diagnosis and phacoemulsification in combination with intraocular lens implantation for an Axenfeld-Rieger syndrome patient with small cornea: a case report.

BACKGROUND: Axenfeld-Rieger syndrome (ARS) is a congenital disease with a series of developmental abnormalities, and no case of ARS with cataract and small cornea has been reported in previous studies. In the present report, we aimed to describe the diagnosis and phacoemulsification of an ARS patient with small cornea. CASE PRESENTATION: A 58-year-old Han Chinese male patient who was referred to Eye Center of the Second Affiliated Hospital of Zhejiang University Medical College was diagnosed with ARS. Systemic and ophthalmic examination and genetic testing were performed. The slit-lamp microscopic examination of anterior segment showed obvious nuclear cataract, iris lesions, and the abnormal cornea of both eyes with small transversal and longitudinal diameters. ARS with bilateral complicated cataract and small cornea was diagnosed. Microincision-phacoemulsification in combination with intraocular lens implantation was performed on his left eye. After successful surgery of his left eye, the best-corrected visual acuity (BCVA) was obviously improved from 2 to 0.5 (LogMAR). A transient elevation of intraocular pressure (IOP) was controlled with medication. CONCLUSIONS: Through genetic testing, a known pathogenic mutation NM_153427.2:c.272G > A was detected on the PITX2 gene; and an unknown mutation NM_001453.2:c.1063C > T was detected on FOXC1 gene. For the ARS patient with complicated cataract, the visual acuity was increased by phacoemulsificasion in combination with microincision.

Causes of congenital corneal opacities and their management in a tertiary care center / Causas de opacidades corneanas congênitas e seu controle em um centro de cuidados terciários

ABSTRACT Purpose: To evaluate causes and management of congenital corneal opacities (CCO) diagnosed in a tertiary care eye center and to compare the data with a previous study at the same institution. Methods: Computerized medical records in all patients with congenital corneal opacities diagnosed in the Cornea Service at Wills Eye Hospital (Philadelphia, PA) between January 1, 2007, and December 31, 2015, were retrospectively reviewed. Children aged 12 years and younger at the first visit were included in the study. Patients' demographics, ocular diagnosis, laterality, associated ocular abnormalities, other ocular surgery performed prior or subsequent to the first visit, and their treatment were extracted from the medical records. Results: A total of 77 eyes in 56 patients were examined. The mean age at presentation was 32.8 ± 44.2 months, with the mean follow-up period of 26.7 ± 30.1 months. The most frequent diagnosis was Peters anomaly (53.2%), followed by limbal dermoid (13.0%), aniridia with glaucoma and microphthalmos (6.5%), sclerocornea and congenital glaucoma (5.2%), idiopathic (3.9%), Axenfeld-Rieger anomaly and Hurler syndrome (2.6%), and microcornea (1.3%). Primary keratoplasty was performed in 26 eyes, with the outcome rate in the clear cornea of 76.0% during the follow-up. Conclusion: Peters anomaly is the most common cause of congenital corneal opacities encountered at our institution. Penetrating keratoplasty is the most frequent choice of corneal surgery to treat congenital corneal opacities. Additional interventions during penetrating keratoplasty were moderately positively correlated with graft failure. This study also shows the rates of some etiologies of that changed over the recent decades in our tertiary care Cornea Service. Although Peters anomaly remains the most common presenting reason for congenital corneal opacities, its rate appears to be increasing over the recent decade. Congenital corneal opacities due to birth trauma, which is one of the preventable causes, were observed in a previous study in our clinic; however, no new cases were noted in this study.

RESUMO Objetivo: Avaliar as causas e o controle das opa cidades corneanas congênitas diagnosticadas em um centro oftal mológico de atendimento terciário e comparar os dados com um estudo anterior realizado na mesma instituição. Métodos: Prontuários médicos informatizados de todos os pacientes com opacidade corneana congênita diagnosticada no Serviço de Córnea no Wills Eye Hospital (Filadélfia, PA) entre 1º de ja neiro de 2007 e 31 de dezembro de 2015 foram revisados retrospectivamente. Crianças com 12 anos ou menos na primeira consulta foram incluídas no estudo. A demografia dos pacientes, o diagnóstico ocular, a lateralidade, as anormalidades oculares associadas, outras cirurgias oculares realizadas antes ou após a primeira consulta e o tratamento foram extraídos dos prontuários médicos. Resultados: Um total de 77 olhos de 56 pacientes foi examinado. A idade média de apresentação foi de 32,8 ± 44,2 meses, com um tempo médio de acompanhamento de 26,7 ± 30,1 meses. O diagnóstico mais frequente foi anomalia de Peters (53,2%), seguido por dermóide límbico (13,0%), aniridia com glaucoma e microftalmia (6,5%), esclerocórnea e glaucoma congênito (5,2%), idiopático (3,9%), síndrome de Axenfeld-Rieger e síndrome de Hurler (2,6%) e microcórnea (1,3%). Ceratoplastia primária foi realizada em 26 olhos, com desfecho de córnea clara de 76,0% durante o acompanhamento. Conclusão: A anomalia de Peters é a causa mais comum de opacidade corneana congênita encontrada em nossa instituição. A ceratoplastia penetrante é a escolha mais frequente de cirurgia corneana para o tratamento de opacidades corneanas congênitas. Intervenções adicionais durante a ceratoplastia penetrante foram moderadamente correlacionadas positivamente com a falha do enxerto. Este estudo também mostra as taxas de algumas etiologias do que mudou ao longo faz últimas décadas em nosso serviço de córnea de atendimento terciário. Embora a anomalia de Peters continue a ser a causa mais comum das opacidades congênitas da córnea, sua taxa parece estar aumentando na última década. Opacidades congênitas da córnea devido a trauma no nascimento, que é uma das causas evitáveis, foram observadas em um estudo anterior em nossa clínica; no entanto, nenhum caso novo foi observado neste estudo.

Causes of congenital corneal opacities and their management in a tertiary care center.

PURPOSE: To evaluate causes and management of congenital corneal opacities (CCO) diagnosed in a tertiary care eye center and to compare the data with a previous study at the same institution. METHODS: Computerized medical records in all patients with congenital corneal opacities diagnosed in the Cornea Service at Wills Eye Hospital (Philadelphia, PA) between January 1, 2007, and December 31, 2015, were retrospectively reviewed. Children aged 12 years and younger at the first visit were included in the study. Patients' demographics, ocular diagnosis, laterality, associated ocular abnormalities, other ocular surgery performed prior or subsequent to the first visit, and their treatment were extracted from the medical records. RESULTS: A total of 77 eyes in 56 patients were examined. The mean age at presentation was 32.8 ± 44.2 months, with the mean follow-up period of 26.7 ± 30.1 months. The most frequent diagnosis was Peters anomaly (53.2%), followed by limbal dermoid (13.0%), aniridia with glaucoma and microphthalmos (6.5%), sclerocornea and congenital glaucoma (5.2%), idiopathic (3.9%), Axenfeld-Rieger anomaly and Hurler syndrome (2.6%), and microcornea (1.3%). Primary keratoplasty was performed in 26 eyes, with the outcome rate in the clear cornea of 76.0% during the follow-up. CONCLUSION: Peters anomaly is the most common cause of congenital corneal opacities encountered at our institution. Penetrating keratoplasty is the most frequent choice of corneal surgery to treat congenital corneal opacities. Additional interventions during penetrating keratoplasty were moderately positively correlated with graft failure. This study also shows the rates of some etiologies of that changed over the recent decades in our tertiary care Cornea Service. Although Peters anomaly remains the most common presenting reason for congenital corneal opacities, its rate appears to be increasing over the recent decade. Congenital corneal opacities due to birth trauma, which is one of the preventable causes, were observed in a previous study in our clinic; however, no new cases were noted in this study.

Microscopia confocal de la córnea en pacientes diabéticos / Confocal microscopy of the cornea in diabetic patients

RESUMEN Objetivo: Identificar las características morfológicas del epitelio, el estroma y el endotelio corneal, así como la densidad celular de este último mediante el empleo de la microscopia confocal de la córnea en pacientes diabéticos. Métodos: Se realizó un estudio descriptivo, comparativo, en 90 ojos; 60 de ellos pertenecientes a pacientes diabéticos (30 tipo 1 y 30 tipo 2) y 30 ojos a pacientes supuestamente sanos. El estudio se realizó en el Instituto Cubano de Oftalmología "Ramón Pando Ferrer" entre enero del año 2012 y enero de 2017. Resultados: Predominó el sexo masculino con 66,7 por ciento en los pacientes con diabetes mellitus tipo 1; el sexo femenino en los pacientes con diabetes mellitus tipo 2 (60 por ciento) y aparentemente sanos (56,7 por ciento). En los pacientes con diabetes mellitus tipo 1 fueron más frecuentes las edades entre 45 y 54 años (33,3 por ciento) y entre 55 y 66 años en los pacientes con diabetes mellitus tipo 2 y aparentemente sanos con 60 y 40 por ciento respectivamente. La morfología del epitelio y el estroma corneal fue normal en el 86,7 y 87,3 por ciento respectivamente. Predominaron las alteraciones de la morfología endotelial en pacientes diabéticos tipo 1 (73,3 por ciento), así como el polimegatismo y el pleomorfismo (73,3 y 56,7 por ciento respectivamente) y la densidad celular más baja (2 222,76 células /mm2). Conclusiones: La ausencia de alteraciones morfológicas del epitelio y el estroma corneal y la presencia de polimegatismo y de pleomorfismo fueron los hallazgos más frecuentes(AU)

ABSTRACT Objective: Identify the morphological characteristics of the corneal epithelium, stroma and endothelium, as well as the cell density of the endothelium by means of confocal microscopy of the cornea in diabetic patients. Methods: A descriptive comparative study was conducted of 90 eyes: 60 from diabetic patients (30 type 1 and 30 type 2) and 30 from supposedly healthy patients, at Ramón Pando Ferrer Cuban Institute of Ophthalmology from January 2012 to January 2017. Results: A predominance was found of the male sex (66.7 percent) among patients with diabetes mellitus type 1 and of the female sex among patients with diabetes mellitus type 2 (60 percent) and seemingly healthy patients (56.7 percent). The most common age ranges were 45-54 years for patients with diabetes mellitus type 1 (33.3 percent) and 55-66 years for patients with diabetes mellitus type 2 (60 percent) and seemingly healthy patients (40 percent). Morphology of the corneal epithelium and stroma was normal in 86.7 percent and 87.3 percent, respectively. In type 1 diabetic patients there was a predominance of endothelial morphological alterations (73.3 percent), polymegethism and pleomorphism (73.3 percent and 56.7 percent, respectively) and the lowest cell density (2 222.76 cells /mm2). Conclusions: Absence of morphological alterations of the corneal epithelium and stroma, as well as the presence of polymegethism and pleomorphism were the most common findings(AU)

[Influence factors and differences of posterior corneal elevation measured by Pentacam system combined with Corvis ST].

Objective: To investigate the influence factors and differences of abnormal posterior corneal elevation by Pentacam system and Corvis ST. Methods: This retrospective case series study included 227 eyes of 144 patients (90 males, 139 eyes; 54 females, 88 eyes) from December 2017 to October 2018 who were going to receive corneal refractive surgery at the Corneal Refraction Department of Qingdao Eye Hospital. The general data of the patients including gender, age, refractive parameters, optimal correction of spherical and cylindrical diopters were collected. All patients underwent Pentacam system and Corvis ST measurement. According to the back difference (BD) of Pentacam parameters, BD<12 µm was set as the control group (59 patients, 118 eyes) and BD≥12 µm as the high BD group (85 patients, 109 eyes). In the high BD group, BD≤16 µm was set as the suspicious group (44 patients, 53 eyes), while BD>16 µm was set as the abnormal group (41 patients, 56 eyes). Seven parameters of Pentacam and 15 parameters of Corvis ST were selected. The Pentacam parameters included BD, anterior surface keratometry (ASK), posterior surface keratometry (PSK), anterior surface astigmatism (AAstig), posterior surface astigmatism (PAstig), central corneal thickness (CCT), and corneal diameter (W-W). The parameters of Corvis ST included the first applanation time (AT(1)), the first applanation length (AL(1)), the first applanation velocity (AV(1)), the second applanation time (AT(2)), the second applanation length (AL(2)), the second applanation velocity (AV(2)), highest concavity time (HCT), highest concavity peak distance (HC-PD), highest concavity deformation amplitude (HC-DA), highest concavity radius (HC-R), the ratio of deformation amplitude (DA ratio), Integr. Radius, corneal thickness thinnest/pachymetric progression (ARTh), SPA1 (resultant pressure divided by deflection amplitude at the first applanation), and the Corvis Biomechanical Index (CBI). The comparison between the groups was analyzed with Independent sample t test, Kruskal-Wallis H test, and Bonferroni test. Spearman rank correlation analysis was used to explore the correlation factors of BD, and the main factors affecting BD were found through multiple linear regression. Results: There were no statistically significant differences between the control group and the high BD group in age, spherical diopters, and cylindrical diopters (t=-3.311, -1.808, -2.359; P=0.071, 0.072, 0.121, respectively). In Pentacam parameters, ASK, PSK, PAstig, and W-W showed significant differences among groups (Z=18.492, 31.547, 10.773, 70.167; P<0.05). AAstig and CCT showed no statistical difference between groups (P>0.05). Compared with the control group [42.80 (41.98, 44.00)], ASK increased in the abnormal group [43.40 (42.20, 44.40)] significantly (t=-4.292; P<0.05). PSK of the suspicious group [-6.50 (-6.60, -6.35)] and the abnormal group [-6.50 (-6.70, -6.33)] increased significantly compared with the control group [-6.30 (-6.50, -6.20)] (t=4.492, 4.618; P<0.05). Compared with the control group [0.40 (0.30, 0.50)], PAstig of the suspicious group [0.40 (0.30, 0.40)] and the abnormal group [0.40 (0.30, 0.40)] increased significantly (t=2.796, 2.515; P=0.016, 0.036). Compared with the control group [11.50 (11.40, 11.80)], W-W of the suspicious group [11.40 (11.00, 11.60)] and the abnormal group [11.10 (10.90, 11.30)] decreased, and W-W of the abnormal group also decreased significantly compared with the suspicious group (t=3.235, 8.353, 4.282; P<0.05). The correlation analysis between BD and Pentacam parameters of patients in each group showed that BD was negatively correlated with W-W (r=-0.614, -0.304, -0.396, -0.661, P<0.05) in the control group, the suspicious group, the abnormal group, and all patients, while BD had a low correlation with other parameters or no significant correlation. The correlation analysis of BD and Corvis ST parameters in patients showed that only in the suspicious group, BD was positively correlated with AV(1), HCT, and HC-DA (r=0.332, 0.361, 0.382, P<0.05), while no significant correlation was found between BD and other Corvis ST parameters in each group. In order to further explore the main factors affecting BD, Pentacam parameters and Corvis ST parameters were selected as independent variables with BD as the dependent variable to establish a multivariate linear regression analysis model. There was no collinearity between variables W-W, ASK, PSK, HC-PD, SPA1, and CCT (tolerance<0.100). The equation test result was F=37.221, P<0.001, adjusted r(2)=0.504, and the fitting was good. Conclusions: Among the Pentacam parameters, W-W, ASK, and PSK are the main factors affecting the change of BD. HC-PD and SPA1 in the Corvis ST parameters may also have some influence on BD. The Pentacam system combined with Corvis ST is a very useful differential diagnosis system for patients with abnormal BD. (Chin J Ophthalmol, 2020, 56:110-117).

Anterior chamber characteristics assessed by rotating Scheimpflug imaging in patients with retinitis pigmentosa / Características da câmara anterior avaliadas por um dispositivo de imagem rotativo Scheimpflug em pacientes com retinite pigmentosa

ABSTRACT Purpose: The aim of this study was to evaluate anterior segment parameters and corneal aberrations in patients with retinitis pigmentosa using Scheimpflug imaging and to compare the findings with those for healthy controls. Methods: This single-center, case-control study included patients diagnosed with retinitis pigmentosa who were followed up at the Department of Ophthalmology of Kayseri Training and Research Hospital between February and June 2018. Age- and sex-matched healthy individuals with no known ophthalmologic disease formed the control group. Both patients with retinitis pigmentosa and controls underwent comprehensive ophthalmic assessments, including the measurement of the best-corrected visual acuity calculation of the spherical equivalent, slit-lamp examination, stereoscopic fundus examination, computerized visual field test, and electroretinography. Topographic and aberrometric values were measured using Scheimpflug-based tomography. Results: This study was performed on 52 eyes of 26 patients with retinitis pigmentosa (14 men) and 52 eyes of 26 healthy controls (11 men). The average keratometry (K avg) values for the patient and control groups were similar (43.87 ± 2.23 versus 43.61 ± 1.68; p=0.546), but the maximum keratometry (K max) value was significantly higher in the patient group (45.85 ± 2.35 and 44.69 ± 1.86; p=0.015). Patients with retinitis pigmentosa had a significantly lower central corneal thickness (518.5 ± 42.3 versus 534.1 ± 24.5, respectively; p=0.042) and maximal corneal thickness (509.1 ± 50.5 versus 530.5 ± 24.1, respectively; p=0.015). Additionally, the iridocorneal angle for the patients was significantly lower (31.6 ± 9.2 versus 35.9 ± 7.7, p=0.025). The aberrometric findings indicated that patients with retinitis pigmentosa had significantly more higher-order aberrations than those in the healthy controls (0.794 ± 51 and 0.398 ± 08, respectively; p<0.001). Conclusions: The results of the present study demonstrated that patients with retinitis pigmentosa have different anterior segment parameters and corneal aberrations compared to healthy controls. These results should be supported by further studies.

RESUMO Objetivo: Este estudo visou avaliar parâmetros do segmento anterior e aberrações corneanas em pacientes com retinite pigmentosa através de imagens de Scheimpflug e comparar os achados com os de controles saudáveis. Métodos: Este foi um estudo caso-controle unicêntrico que incluiu pacientes com o diagnóstico de retinite pigmentosa em acompanhamento no Departamento de Oftalmologia do Hospital de Treinamento e Pesquisa de Kayseri, entre fevereiro e junho de 2018. Indivíduos saudáveis pareados por idade e sexo, sem nenhum conhecimento da doença oftalmológica formou o grupo controle. Ambos os pacientes com retinite pigmentosa quanto os controles foram submetidos a avaliações oftalmológicas abrangentes, incluindo a medição do cálculo da acuidade visual melhor corrigida, o cálculo do equivalente esférico, biomicroscopia, fundoscopia estereoscópica, campimetria computadorizada e eletrorretinografia. Os valores topográficos e de aberrometria foram medidos através de tomografia baseada no sistema Scheimpflug. Resultados: O estudo incluiu 52 olhos de 26 pacientes com retinite pigmentosa (14 homens) e 52 olhos de 26 controles saudáveis (11 homens). Os valores médios da ceratometria (K avg) para grupos dos pacientes e controle foram semelhantes (43,87 ± 2,23 versus 43,61 ± 1,68, p=0,546), mas o valor máximo da ceratometria (K max) foi significativamente maior no grupo de pacientes (45,85 ± 2,35 e 44,69 ± 1,86; p=0,015). Pacientes com retinite pigmentosa apresentaram uma espessura corneana central significativamente menor (518,5 ± 42,3 versus 534,1 ± 24,5, respectivamente; p=0,042) e espessura corneana máxima (509,1 ± 50,5 verus 530,5 ± 24,1, respectivamente; p=0,015). Além disso, o ângulo iridocorneano para os pacientes foi significativamente menor (31,6 ± 9,2 versus 35,9 ± 7,7; p=0,025). Os achados da aberrometria indicaram que os pacientes com retinite pigmentosa apresentaram significativamente mais aberrações de ordem superior em comparação com os controles saudáveis (respectivamente 0,794 ± 51 e 0,398 ± 08, respectivamente; p<0,001). Conclusões: Os resultados do presente estudo demonstraram que pacientes com retinite pigmentosa têm diferentes parâmetros do segmento anterior e aberrações corneanas em comparação com controles saudáveis. Estes resultados precisam ser confirmados por novos estudos.

Microcornea, Posterior Megalolenticonus, Persistent Fetal Vasculature, and Coloboma Syndrome Associated With a New Mutation in ZNF408.

The authors report a case of a 6-week-old girl with microphthalmia, posterior lenticonus, persistent fetal vasculature, and coloboma of the right eye, with morning glory disc anomaly and falciform retinal folds of the left eye. Genetic testing revealed a previously unreported mutation (c.1471A>G [p.T491A]) in the gene ZNF408, which has been associated with autosomal recessive retinitis pigmentosa and autosomal dominant familial exudative vitreoretinopathy. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:253-256.].

Rab18 Collaborates with Rab7 to Modulate Lysosomal and Autophagy Activities in the Nervous System: an Overlapping Mechanism for Warburg Micro Syndrome and Charcot-Marie-Tooth Neuropathy Type 2B.

Mutations in RAB18, a member of small G protein, cause Warburg micro syndrome (WARBM), whose clinical features include vision impairment, postnatal microcephaly, and lower limb spasticity. Previously, our Rab18-/- mice exhibited hind limb weakness and spasticity as well as signs of axonal degeneration in the spinal cord and lumbar spinal nerves. However, the cellular and molecular function of RAB18 and its roles in the pathogenesis of WARBM are still not fully understood. Using immunofluorescence staining and expression of Rab18 and organelle markers, we find that Rab18 associates with lysosomes and actively traffics along neurites in cultured neurons. Interestingly, Rab18-/- neurons exhibit impaired lysosomal transport. Using autophagosome marker LC3-II, we show that Rab18 dysfunction leads to aberrant autophagy activities in neurons. Electron microscopy further reveals accumulation of lipofuscin-like granules in the dorsal root ganglion of Rab18-/- mice. Surprisingly, Rab18 colocalizes, cofractionates, and coprecipitates with the lysosomal regulator Rab7, mutations of which cause Charcot-Marie-Tooth (CMT) neuropathy type 2B. Moreover, Rab7 is upregulated in Rab18-deficient neurons, suggesting a compensatory effect. Together, our results suggest that the functions of RAB18 and RAB7 in lysosomal and autophagic activities may constitute an overlapping mechanism underlying WARBM and CMT pathogenesis in the nervous system.

Clinical Characteristics of Autosomal Dominant GJA1 Missense Mutation Linked to Oculodentodigital Dysplasia in a Korean Family.

PURPOSE: We aimed to present a comprehensive assessment of the ophthalmic characteristics of genetically confirmed oculodentodigital dysplasia (ODDD) in 4 members of a single Korean family across 3 generations. PATIENTS AND METHODS: The characteristics of 4 affected ODDD patients were evaluated. Comprehensive ophthalmic and medical examinations were performed in 3 patients including the proband, together with genetic analysis, and retrospective chart review was conducted for an affected ancestor. For genetic analysis, targeted gene panel sequencing was conducted using genomic DNA extracted from peripheral blood. RESULTS: All affected individuals in this family showed shared ophthalmic abnormalities of microcornea, microphthalmia, elevated intraocular pressure, and shallow anterior chamber, all of which have been reported as typical ocular features of ODDD. Myopic refractive error despite short axial length and thick cornea were highlighted as new findings of ODDD. Facial abnormalities were common in all affected members, but their fingers were normal. Severity of glaucoma was different among the affected individuals and seemed to depend on elevation of intraocular pressure, which occurred in narrow, but open-angle. Genetic analysis revealed the presence of c.119C>T (p.Ala40Val) in GJA1, which is responsible for ODDD, but not found in the control population. CONCLUSIONS: This report describes detailed ocular characteristics in a genetically confirmed ODDD family, including unreported findings of thick cornea and myopic refractive error despite short axial length. The ocular features derived from the A40V mutation in GJA1 showed complete penetrance, suggesting a possible role of Cx43 in regulation of IOP and pathogenesis of glaucoma.

Amniotic Band Syndrome: A Review of 2 Cases.

Amniotic band syndrome is a rare congenital disorder caused by entrapment of fetal parts (usually a limb or digits) in fibrous amniotic bands while in utero that presents with complex multisystem anomalies. The authors report 2 children with amniotic band syndrome who presented to the ophthalmic unit of the authors' pediatric hospital. One of them presented with telecanthus, syndactyly, amputated toes, and unilateral epiphora diagnosed as congenital nasolacrimal duct obstruction. She was managed conservatively with lacrimal sac massage and provided with refractive correction while she simultaneously underwent multiple surgeries for correction of clubfoot and craniosynostosis. The second patient presented with cleft lip, cleft palate, multiple constriction bands in upper limbs and fingers with unilateral microphthalmos, microcornea, typical iris coloboma, and retinochoroidal coloboma, very similar to a case reported in literature. These 2 cases provide an overview of the clinical spectrum of ophthalmic manifestations along with their staged optimum rehabilitation.

Combined Cataract Extraction With Pars Plana Vitrectomy and Metallic Intraocular Foreign Body Removal Through Sclerocorneal Tunnel Using a Novel "Magnet Handshake" Technique.

PURPOSE: To study the outcomes of combined cataract extraction with pars plana vitrectomy (PPV) and metallic intraocular foreign body (IOFB) removal through a sclerocorneal tunnel using the "magnetic handshake" technique. DESIGN: A retrospective review. METHODS: Retrospective review of case records of 14 patients from 2010 to 2016 with metallic IOFB and traumatic cataract was performed. Cataract extraction was combined with PPV. Two intraocular magnets (IOMs) introduced through 20-gauge vitrectomy port and sclerocorneal tunnel helped achieve safe delivery of IOFB outside the globe by the "magnetic handshake" technique. RESULTS: All patients were males with a mean age of 33.04 years. A final best corrected visual acuity (BCVA) of 20/60 or better was noted in 10 (71.42%) of 14 patients. Final reattachment with more than 1 surgery was achieved in 13 (92.85%) patients. Postoperative complications included retinal detachment (RD) and phthisis bulbi in 1 (14.28%) patient each. CONCLUSIONS: Combined cataract extraction with PPV and metallic IOFB removal through sclerocorneal tunnel using the "magnet handshake" technique gives good visual and surgical outcomes.

Surgical Outcome of Congenital Cataract in Eyes With Microcornea.

PURPOSE: To report the intraoperative and postoperative outcomes of congenital cataract surgery in eyes with microcornea. METHODS: In this retrospective, interventional, comparative case series, the authors reviewed 47 eyes of 26 children with microcornea and congenital cataract (21 bilateral and 5 unilateral) who underwent lens aspiration with primary posterior capsulectomy and anterior vitrectomy between 2008 and 2014 with a minimum follow-up period of 6 months. Demographic profiles and systemic and ocular features were documented. Intraoperative and postoperative complications were studied separately for bilateral and unilateral cases. Patients were also divided into two groups on the basis of their ages at surgery (early surgery group: 3 months or younger; late surgery group: older than 3 months) and postoperative complications were compared. Visual outcome was analyzed in those with a follow-up period of more than 1 year. RESULTS: Early surgery was performed in 24 eyes of 13 patients (11 bilateral and 2 unilateral) and late surgery in 23 eyes of 13 patients (10 bilateral and 3 unilateral). Intraoperatively, all eyes had poor pupillary dilatation and 6 (12.8%) eyes needed iris hooks. Postoperatively, the most common early complication was transient corneal edema observed in 22 (46.8%) eyes (13 and 8 eyes in the early and late surgery groups, respectively). Late complications included visual axis opacification in 6 (12.76%) eyes (3 in each group), and secondary glaucoma in 5 (10.64%) eyes (2 and 3 eyes in the early and late surgery groups, respectively). Vision was normal for age in 18 (60%) of the bilateral cases with a follow-up period of more than 1 year. CONCLUSIONS: Early surgical intervention for congenital cataract in eyes with microcornea can result in favorable outcomes with an acceptable rate of postoperative complications. [J Pediatr Ophthalmol Strabismus. 2018;55(1):30-36.].