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ABSTRACT This case report presents the details of a 33-year-old female patient who was referred to a specialized retina service because of mild vision loss in her right eye). The patient's visual acuity was 20/25 in right eye and 20/50 in the left eye (; amblyopic); the spherical equivalent was -12.75 diopters (right eye) and -14.75 diopters (left eye). Multimodal retinal imaging showed peripapillary schisis in both the inner and outer retinal layers, grade II posterior vitreous detachment, and a tessellated fundus. Using Humphrey perimetry and MP-3 microperimetry, the functional evaluation indicated macular sensitivity within normal limits and decreased sensitivity in the peripapillary region, especially in right eye. The pattern-re versal visual evoked potential was measured. The N75 and P100 latency and amplitude in right eye were within normal values for checks of 1º. However, the amplitude was low for checks of 15′. Highly myopic patients who have posterior staphyloma that involves the optic nerve are susceptible to posterior hyaloid traction, and the resulting peripapillary vitreous traction may compromise vision.
RESUMO Este relato de caso apresenta um paciente feminino de 33 anos encaminhado para um serviço especializado de retina devido à leve perda de visão em olho direito. A acuidade visual foi de 20/25 no olho direito e 20/50 no olho esquerdo, o equivalente esférico foi de -12,75 dioptrias e -14,75 dioptrias, respectivamente. Avaliações multimodais revelaram isquese peripapilar nas camadas internas e externas da retina, descolamento vítreo posterior grau II e fundo tesselado. Avaliação funcional com perimetria Humphrey e microperimetria MP-3 revelaram sensibilidade macular normais e diminuição da sensibilidade na região peripapilar, especialmente no olho direito. Potencial visual evocado de padrão reverso apresentou no olho direito latência e amplitude N75 e P100 dentro dos valores normais para verificação de 1º. Entretanto, a amplitude foi baixa para a de 15′. Pacientes alto míopes com esfiloma posterior envolvendo o nervo óptico são suscetíveis à tração da hialoide posterior. Portanto a tração vitreopapilar resultante pode causar comprometimento da visão.
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Objective:To study the clinical phenotype and molecular genetic characteristics of a Chinese Han family with X-linked retinoschisis (XLRS), and to determine the associated gene variations.Methods:A pedigree investigation was performed.The clinical characteristics and pedigree analysis of a Han Chinese family line with XLRS was conducted in August 2021 at the Xiamen Eye Center Affiliated to Xiamen University.All patients and the carriers underwent comprehensive medical history collection and routine ophthalmological examinations, including visual acuity, non-contact tonometer, slit lamp microscope, direct ophthalmoscope, and optical coherence tomography.The proband and some patients underwent medical optometry, fundus photography or wide-angle fundus photography, and electroretinogram examination.Peripheral venous blood samples were collected from the family members, and whole exome sequencing (WES) analysis was performed on the proband samples.For variants screened by WES, the expanded verification in other patients and normal persons in the family was carried out by Sanger sequencing.Multiple bioinformatic tools were used to analyze the pathogenicity of variants.This study protocol was approved by the Ethics Committee of Xiamen Eye Center of Xiamen University (No.XMYKZX-KY-2021-012). Written informed consent forms were obtained from each subject or guardian of minors.CADD, FATHMM and other bioinformatics tools were used to analyze the pathogenicity of the variation sites.Results:The Han XLRS pedigree consisted of 8 individuals in 3 generations.Out of the 3 cases diagnosed with XLRS based on clinical evaluation, all were male.The mother of the proband was a carrier of related genes.There were 5 persons with normal phenotypes.There was no history of consanguineous marriages within the family, and the disease was shown to be intergenerational, which is consistent with the recessive inheritance of the X chromosome.None of the patients had a history of systemic disease or any other abnormal manifestations.The prevailing feature of ophthalmopathy was poor binocular vision since childhood.The proband and his younger brother had spoke split in the macula, and their grandfather showed atrophy of retinal nerve fibers.Genetic analysis revealed a hemizygous variation c. 214G>C: p.Glu72Gln in the RS1 gene in all the patients in this family.The proband's mother was heterozygous at this site, and all other phenotypically normal family members exhibited wild type at this site.This variant was predicted to be a deleterious variation and likely to cause disease based on bioinformatics analysis. Conclusions:The proband and patients in this Han Chinese family have the known c. 214G>C: p.Glu72Gln hemizygous variation of the RS1 gene and exhibit mild XLRS, which was consistent with the recessive inheritance of X chromosome.
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RESUMO O glaucoma e a retinosquise juvenis são doenças raras isoladamente. Ocorrem bilateralmente com início precoce, resultando em grave perda visual. O glaucoma juvenil é descrito principalmente no sexo masculino, com pressão intraocular elevada, e a retinosquise juvenil é caracterizada por formação de cistos retinianos. Este caso relata um paciente do sexo masculino de 16 anos com perda visual progressiva que apresentou a associação de ambas as patologias, tratando-se este de um acometimento incomum e grave. Após diagnóstico e tratamento medicamentoso adequado, evoluiu com melhora do quadro, não necessitando de intervenção cirúrgica.
ABSTRACT Juvenile glaucoma and retinoschisis are rare diseases alone. They occur bilaterally with early onset, resulting in severe visual loss. Juvenile glaucoma is mainly described in males, with high intraocular pressure, and juvenile retinoschisis is characterized by the formation of retinal cysts. This case reports a 16-year-old male patient with progressive visual loss that presents an association of both pathologies, which is an uncommon and severe involvement. After adequate diagnosis and drug treatment, the condition improved and did not require surgical intervention.
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Objective:To review the outcome of intravitreous anti-vascular endothelial growth factor (VEGF) treatment in patients with X-linked retinoschisis (XLRS) complicated with vitreous hemorrhage (VH).Methods:A retrospective clinical study. From March 1, 2016 to April 1, 2022, 18 patients (19 eyes) diagnosed with XLRS complicated with vitreous hemorrhage in Beijing Tongren Hospital, Capital Medical University of Eye Center were included. All the patients were male, with a median age of 7.05±3.8 years. Best corrected visual acuity (BCVA) and wide-angle fundus photography were performed in all the patients. BCVA was carried out using international standard visual acuity chart, and converted into logarithm of minimum resolution angle (logMAR) in statistics analysis. According to whether the patients received intravitreal injection of ranibizumab (IVR), the patients were divided into injection group and observation group, with 11 eyes in 10 cases and 8 eyes in 8 cases, respectively. In the injection group, 0.025 ml of 10 mg/ml ranibizumab (including 0.25 mg of ranibizumab) was injected into the vitreous cavity of the affected eye. Follow-up time after treatment was 24.82±20.77 months. The VH absorption time, visual acuity changes and complications were observed in the injection group after treatment. Paired sample t test was used to compare BCVA before and after VH and IVR treatment. Independent sample t test was used to compare the VH absorption time between the injection group and the observation group. Results:LogMAR BCVA before and after VH were 0.73±0.32 and 1.80±0.77, respectively. BCVA decreased significantly after VH ( t=-3.620, P=0.006). LogMAR BCVA after VH and IVR were 1.87±0.55 and 0.62±0.29, respectively. BCVA was significantly improved after IVR treatment ( t=6.684, P<0.001). BCVA records were available in 5 eyes before and after IVR, and the BCVA values after VH and IVR were 0.58±0.31 and 0.48±0.20, respectively, with no statistically significant difference ( t=1.000, P=0.374). BCVA increased in 1 eye and remained unchanged in 4 eyes after treatment. BCVA records were available in 5 eyes before VH and after VH absorption in the 8 eyes of the observation group. LogMAR BCVA before VH and after VH absorption were 0.88±0.28 and 0.90±0.26, respectively, with no significant difference ( t=-1.000, P=0.374). After VH absorption, BCVA remained unchanged in 4 eyes and decreased in 1 eye. The absorption time of VH in the injection group and the observation group were 1.80±1.06 and 7.25±5.04 months, respectively. The absorption time of VH was significantly shorter in the injection group than in the observation group, the difference was statistically significant ( t=-3.005, P=0.018). Multivariate linear regression analysis showed that IVR treatment was significantly correlated with VH absorption time ( B=-6.66, 95% confidence interval -10.93--2.39, t=-3.40, P=0.005). In the injection group, VH recurrence occurred in 1 eye after IVR treatment. Vitrectomy (PPV) was performed in one eye. In the 8 eyes of the observation group, VH recurrence occurred in 2 eyes, subsequent PPV in 1 eye. The rate of VH recurrence and PPV was lower in the injection group, however, the difference was not statistically significant( P=0.576, 1.000). In terms of complications, minor subconjunctival hemorrhage occurred in 2 eyes and minor corneal epithelial injury occurred in 1 eye in the injection group, and all recovered spontaneously within a short time. In the injection group, 9 eyes had wide-angle fundus photography before and after IVR treatment. There was no significant change in the range of peripheral retinoschisis after treatment. No obvious proliferative vitreoretinopathy, infectious endophthalmitis, retinal detachment, macular hole, complicated cataract, secondary glaucoma or other serious complications were found in all the treated eyes, and there were no systemic complications. Conclusion:Intravitreous anti-VEGF treatment may accelerate the absorption of vitreous hemorrhage in patients with XLRS. No impact is found regarding to the peripheral retinoschisis.
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Objective:The aim of this study was to observe the clinical effects of myopic foveoschisis (MF) via triamcinolone (TA) assisted fovea-sparing internal limiting membrane peeling (FSILMP).Methods:This study was prospective research, including 41 cases (44 eyes) of patients diagnosed with MF in Changsha Aier Eye Hospital from November 2018 to June 2020. All patients underwent combined TA assisted FSILMP and 25 G pars plana vitrectomy (PPV). The posterior vitreous cortex, epiretinal membrane and internal limiting membrane (ILM) in the macular area were labeled by TA particles. The corrected visual acuity, central retinal thickness (CRT), post-operative healing of myopic foveoschisis and the incidence of macular hole were observed. Facilitating statistics, in this study, decimal visual acuity was converted to logMAR visual acuity through the formula logMAR=lg(1/decimal visual acuity).Results:Three cases underwent binocular surgery and 38 cases underwent monocular surgery. The average age of the patients was (56.16±11.00)years old ranging from 30-73 year olds; the average axial length of the patients was (30.50±1.96)mm which was ranging from 26.19-34.52 mm. The corrected visual acuity was 0.1-3(1.65±0.67) and the CRT was 126-1 100(473.47±195.96)mm. The patients were followed up for 1-31(13.89±8.32)months. A total of 38 cases (41 eyes) were followed up and 3 cases were lost. Reduction of MF in 41 eyes: 5 eyes (12.2%) were not healed, 12 eyes (29.3%) were improved, 8 eyes (19.5%) were near healed and 16 eyes (39.0%) were healed. The incidence of macular hole was 4.9% (2 eyes). The postoperative corrected visual acuity was 1.00±0.62, which was significantly higher than the preoperative corrected visual acuity [(1.65±0.67), t=8.23, P<0.01]. The postoperative CRT was (295.88±167.55)μm, which was significantly lower than that before operation (473.47±195.96)μm( t=7.82, P<0.01). Conclusions:TA can better mark the vitreous cortex, epiretinal membrane and inner limiting membrane of high myopia MF, and avoid the retinal toxicity caused by repeated indocyanine green (ICG) staining. At the same time, the effect of TA assisted FSILMP is no less than that of ICG assisted FSILMP in postoperative visual acuity recovery, CRT and the incidence of postoperative macular hole.
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@#AIM: To investigate the pathogenic mutations of the <i>OAT</i> gene in a Chinese family affected with gyrate atrophy of choroid and retina(GA)and describe their clinical manifestations.METHODS: All available family members have underwent detailed ophthalmological examinations. The sequencing results and pathogenic mutations were clarified by whole exome sequencing, bioinformatics analysis and Sanger sequencing.RESULTS: Based on the clinical manifestations and symptoms, the proband was diagnosed with GA. A missense mutation of c.722C>T(p.P241L)in exon 6 and a nonsense mutation of c.1186C>T(p.R396X)in exon 10 were identified in the <i>OAT</i> gene of the proband, which was a compound heterozygotic mutation. This compound heterozygous mutation showed co-segregation in the family. The heterozygous pathogenic variant of p.R396X was detected in both the proband's father and elder brother, and the heterozygous pathogenic variant of p.P241L was detected in proband's mother. Except for the proband, no other family members have abnormal clinical manifestations.CONCLUSION: The proband of this family is a compound heterozygous mutation, in which p.P241L is the first reported gene mutation type. This result expands the range of <i>OAT</i> gene variation and is conducive to further understanding the pathogenic factors of GA at the molecular basis level. The discovery and confirmation of the novel mutation type will also help to provide a new basis for the clinical diagnosis and gene therapy of GA.
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High myopia (HM) is one of the main causes of vision loss. In recent years, optical coherence tomography and other techniques have shown a variety of vitreoretinal interface abnormalities (VRIA) in highly myopic eyes. Posterior vitreous detachment and paravascular abnormality are the relatively common manifestations of VRIA. Posterior vitreous detachment is classified in several different ways in HM eyes, the onset age of which is earlier in HM. Paravascular abnormality mainly includes paravascular microfold, paravascular cyst, paravascular lamellar hole, and paravascular retinoschisis. The former two are early-stage lesions, the latter two are advanced lesions. VRIA is closely related to many HM's fundus complications, such as myopic retinoschisis, macular hole, retinal detachment and so on. VRIA may develop into myopic retinoschisis, which in turn develop into full-thickness macular hole, and even retinal detachment. Therefore, the examination and judgment of VRIA in HM patients are of great significance for the early prevention and treatment of clinical retina diseases.
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Objective:To observe the imaging features of optical coherence tomography (OCT) in peripheral retinal abnormalities of high myopia (HM).Methods:A retrospective series of case studies were conducted. From March 2019 to March 2021, 38 cases (50 eyes) in high myopia with peripheral retinal abnormalities who were confirmed to Henan Eye Hospital were enrolled in the study. There were 21 eyes in 17 males and 29 eyes in 21 females, age was 39.58±15.29 years, diopter was (-9.10±2.44) D. All patients underwent wide-angle fundus photography and OCT examination. According to wide-angle fundus photography and OCT, HM with peripheral retinal abnormalities were classified into white-without-pressure, black-without-pressure, lattice degeneration, peripheral pigmented degeneration, retinoschisis and retinal holes. OCT imaging features of peripheral abnormalities in high myopia was observed.Results:In 50 eyes, 65 peripheral retinal abnormalities were observed by OCT. In 6 white-without-pressure, intense hyperreflectivity was shown at the level of the ellipsoid zone that abruptly transitions to relative hyporeflectivity at the dark border of the lesion. In 16 black-without-pressure, reflectivity of the ellipsoid zone decreased. In 10 sites of lattice degeneration, cystoid degeneration, local thinning, retinal tear at the posterior edge and boundary of the lesion was shown, whcih may be accompanied by local vitreous condensation and traction. In 4 peripheral pigmented degeneration, retinal interlayer hyperreflectivity was shown. In 12 retinoschisis, neuroepith-elial separation was connected by vertical bridge or columnar light bands, of which 3 were accompanied with localized retinal detachment and 2 with splitting-related retinal vascular abnormalities. In 17 retinal holes, full layer of neuroepithelium lost, that 12 zones were accompanied with retinal detachment with vitreous adhesion or traction.Conclusion:OCT manifestations of peripheral retinal abnormalities in HM varies.
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La Retinosquisis ligada al X, que se presenta fundamentalmente en varones, es una enfermedad genética caracterizada por agudeza visual reducida debido a degeneración macular. Su prevalencia es de 1/5000 varones en todo el mundo. Se manifiesta desde la primera década de la vida con pérdida de la visión que progresa hasta la adolescencia y se mantiene estable hasta la 4ta década de la vida, momento en que presenta un declive importante. El fondo de ojo suele mostrar esquisis. Las mujeres portadoras rara vez presentan síntomas. El gen involucrado es RS1, codifica para Retinosquina, proteína que participa en la integridad estructural y funcional de la retina. El mismo presenta diferentes mutaciones que generan pérdida de función de la proteína. La sospecha diagnóstica se basa en la clínica y los antecedentes familiares, y se apoya en la paraclínica confirmándose en la mayoría de los casos mediante secuenciación del gen. El tratamiento consiste en control periódico oftalmológico y cirugía de las complicaciones. Presentamos el caso de un niño de 2 años con episodios reiterados de desprendimiento de retina, con antecedentes familiares de Retinosquisis por línea materna en individuos de sexo masculino. Estos fueron estudiados demostrándose que son portadores de la variante probablemente patogénica c.466A>C (Arg156Gly) en el gen RS1 la cual había sido reportada previamente en una familia de origen chino. Se demostró que nuestro paciente presenta la mutación familiar en hemicigosis, por lo que esta es la segunda familia en que se confirma la segregación de esta variante con Retinosquisis.
X-linked Retinoschisis is a genetic disease characterized by reduced visual acuity mainly in men due to juvenile macular degeneration. Its prevalence is 1/5000 men worldwide. It manifests from the first decade of life with loss of vision that progresses to adolescence and then remains stable until the 4th decade of life, when it may present a significant decline. The fundus exam usually shows schism. Carrier women rarely have symptoms. The gene involved is RS1 (Xp22.13), which encodes for Retinoschisin, a protein that participates in the structural and functional integrity of the retina. In affected cases, mutations that generate loss of protein function were demonstrated. The diagnosis is based on the clinical and family history, and is supported by ophthalmology evaluation; in most cases it can be confirmed by sequencing of the gene. The treatment consists of periodic ophthalmological control and surgery of the complications. We describe the case of a 2 year old boy with repeated episodes of retinal detachment and who has a family history of Retinoschisis by maternal line in male individuals. These were studied, and it was shown that they are carriers of the probably pathogenic variant c.466A> C (Arg156Gly) in the RS1 gene, which had been reported previously in a family of Chinese origin. It was shown that our patient presents the family mutation in hemizygous state, so this is the second family in which the segregation of this variant with Retinoschisis is confirmed.
A retinosquise ligada ao X, que ocorre principalmente em homens, é uma doença genética caracterizada pela redução da acuidade visual devido à degeneração macular. Sua prevalência é de 1/5000 homens em todo o mundo. Manifesta-se desde a primeira década de vida com perda da visão que progride até a adolescência e permanece estável até a 4ª década de vida, época em que apresenta declínio significativo. O fundo geralmente mostra esquise. Portadoras do sexo feminino raramente apresentam sintomas. O gene envolvido é o RS1, que codifica a Retinosquina, proteína que participa da integridade estrutural e funcional da retina. Apresenta diferentes mutações que geram perda de função da proteína. A suspeita diagnóstica baseia-se na história clínica e familiar, e na paraclínica, sendo confirmada na maioria dos casos pelo sequenciamento gênico. O tratamento consiste em acompanhamento oftalmológico periódico e cirurgia para complicações. Apresentamos o caso de um menino de 2 anos com episódios repetidos de descolamento de retina, com história familiar de retinosquise materna no sexo masculino. Estes foram estudados mostrando que são portadores da variante provavelmente patogênica c.466A> C (Arg156Gly) no gene RS1, que havia sido relatado anteriormente em uma família de origem chinesa. Foi demonstrado que nosso paciente apresenta a mutação familiar em hemizigose, sendo esta a segunda família em que se confirma a segregação desta variante com Retinosquise.
Subject(s)
Humans , Male , Infant , Retinoschisis/genetics , Retinoschisis/diagnostic imaging , Eye Proteins/genetics , MutationABSTRACT
ABSTRACT X-linked juvenile retinoschisis (XLRS) is a vitreoretinal degeneration caused by mutations in the RS1 gene, generally characterized by bilateral maculopathy and peripheral retinoschisis leading to progressive visual loss during the first 2 decades of life and complications like retinal detachment and vitreous hemorrhage. Herein, we present late ophthalmology findings in a XLRS patient.
RESUMO A retinosquise juvenil ligada ao cromossomo X (XLRS) é uma degeneração vitreorretiniana causada por mutações no gene RS1, geralmente caracterizada por maculopatia bilateral e retinosquise periférica, levando à perda visual progressiva durante as primeiras 2 décadas de vida e complicações como descolamento de retina e hemorragia vítrea. Apresentamos aqui achados oftalmológicos tardios em um paciente com XLRS.
Subject(s)
Humans , Male , Middle Aged , Retinoschisis/diagnostic imaging , Genetic Diseases, X-Linked/diagnostic imaging , Tomography, Optical Coherence/methodsABSTRACT
X-linked juvenile retinoschisis (XLRS) is a rare X-linked inherited retinal disorder, mainly affects bilateral retina. Patients often present with visual deterioration accompanied by a spoke-wheel pattern in the macula due to splitting of inner retinal layers and a disproportionate decline in the b-wave relative to a-wave of electroretinogram. The current therapy is mainly directed toward treatment of complications with no effective clinical management yet. In recent years, with the deepening understanding of XLRS, adeno-associated virus(AAV)-mediated gene therapy has become a potential new approach for the treatment. Two clinical trials on XLRS gene therapy are currently underway. These two clinical trials assess the ocular safety and tolerability of recombinant AAV- RS1 vector and explore its safe dose in XLRS patients. However, the recovery of retinal structure and function in XLRS patients is unsatisfactory. Following the in-depth research and progress of clinical trials, it is expected that more accurate and effective treatments for XLRS patients will be provided in the future.
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Objective:To study the characteristics of the genotype and phenotypic in a family with X-linked retinoschisis (XLRS) due to RS1 mutation. Methods:A retrospective clinical study. An XLRS family of 4 generations of 26 people were included in the study. Among them, 8 participants were males and 7 participants were females. Routine ophthalmologic examination was performed on 3 patients in the family including the proband and 12 patients with normal phenotype. Optical coherence tomography was performed in 2 of the 3 patients. Peripheral venous blood was extracted from all participants, whole-genome DNA was extracted, and potential pathogenic genes were screened by Panel sequencing. Conservative analysis, pathogenicity analysis and protein structure prediction were carried out by software tools. The pathogenicity of gene mutations was analyzed according to the American Society of Medical Genetics and Genomics (ACMG) guidelines.Results:The proband was 3 years old. Optical coherence tomography (OCT) examination showed that the retinal core layer in the macular area of both eyes had a cystic change, which was segmented by vertical or oblique bridging tissue. The proband's uncle was 32 years old. OCT examination showed atrophy in the macular area of the left eye. The macular area of the right eye was cystoid, segmented by vertical or oblique bridging tissue. No abnormality was found in the fundus examination of the proband's parents and 10 members of his family. Panel sequencing showed that c.361C>T/ p.Q121X hemizygous mutation was found in the fifth exon of RS1 gene in the proband (Ⅳ3) and 2 patients (Ⅱ1, Ⅲ8). The mother was a heterozygous mutation carrier of the gene, while the father had no mutation. The mutant gene causes premature termination of RS1, a truncated protein encoding 224 amino acids to 120 amino acids. Of the 10 patients with normal fundus examination, 6 participants were normal. The mutation was carried by four people, which were women. Homology analysis of the protein sequence showed that the mutant site was highly conserved in 12 mammals. Three-dimensional structural analysis of RS1 protein showed that the c-terminal amino acid sequence of the mutant protein was more than 50% missing. Analysis of ACMG guidelines indicated that the mutation was pathogenic. Conclusion:The RS1 mutation site c.361C>T/p.Q121X is a new mutation site of XLRS.
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@#Stellate nonhereditary idiopathic foveomacular retinoschisis(SNIFR)is a new catagory of foveomacular retinoschisis, defined by spokelike appearance on fundus which is similar to X-linked congenital retinoschisis, and without agenetic predisposition. SNIFR is most commonly unilateral and female predominance. The retinoschisis in SNIFR occurs primarily in outer plexus split(OPL), and coexists with inner retinal or peripheral retinoschisis in some cases. The characteristics of SNIFR on multimodal fundus imaging are summarized in the review. The pathogenesis of SNIFR is not yet elucidated. At present, there is not practicable systematic treatment for this disease. Topical dorzolamide therapy or vitrectomy may improve the vision and foveomacular retinoschisis.
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@#Myopic retinoschisis(MRS)is a major complication of pathological myopia. The pathogenesis of MRS is not yet fully understood and it can be the result of a number of different factors. The posterior vitreous cortex and the internal limiting membrane(ILM)are thought to play a role in the formation of the retinal splitting. In addition, retinal arteriole traction has been associated with axial length extension and the pathogenesis of MRS. The diagnosis of MRS is done by using optical coherence tomography(OCT), B-mode ultrasound and ultra-wide field fundus autofluorescence(UWF-FAF). The main treatment methods of MRS are pars plana vitrectomy(PPV)and the macular buckling technique(MB). This article reviews the pathogenesis, the course and the diagnostic methods of MRS, as well as, the treatment progress.
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PURPOSE: We investigated the long-term outcomes of vitrectomy with internal limiting membrane (ILM) peeling as treatment for myopic traction maculopathy (MTM).METHODS: The medical records of patients who underwent vitrectomy to treat MTM were retrospectively evaluated. We excluded patients who exhibited macular holes (MHs) or retinal detachment at the time of primary surgery. The best-corrected visual acuity (BCVA) and central foveal thickness (CFT) were analyzed preoperatively, at 3, 6, 12, and 24 months after surgery, and at the final visit. Complications including retinal detachment or an MH were noted during follow-up.RESULTS: Twenty-three eyes of 22 patients were enrolled. At the time of primary surgery, the mean patient age was 64.4 ± 11.1 years and the baseline mean logMAR BCVA and CFT, 0.67 ± 0.50 and 431.8 ± 159.5 µm, respectively. The mean follow-up period was 53.7 ± 19.3 months. The mean logMAR BCVAs at 3, 6, 12, and 24 months postoperatively and at the final visit were 0.42 ± 0.39 (p = 0.001), 0.41 ± 0.38 (p = 0.001), 0.39 ± 0.40 (p < 0.001), 0.42 ± 0.43 (p < 0.001), and 0.51 ± 0.47 (p = 0.016), respectively, thus significantly better than the baseline value. The mean CFT at 3, 6, 12, and 24 months postoperatively and at the final visit were 244.6 ± 72.3, 210.5 ± 79.1, 209.6 ± 91.6, 219.8 ± 93.9, and 217.7 ± 81.3 µm, respectively, thus significantly less than baseline (all p < 0.001). MTM resolved in 18 eyes (78.3%) after primary surgery, without any complication, and remained stable to the final visit.CONCLUSIONS: Vitrectomy with ILM peeling afforded favorable long-term efficacy and safety in MTM patients.
Subject(s)
Humans , Follow-Up Studies , Medical Records , Membranes , Myopia, Degenerative , Prognosis , Retinal Detachment , Retinal Perforations , Retinoschisis , Retrospective Studies , Traction , Visual Acuity , VitrectomyABSTRACT
A 11-year-old boy presented with complaints of blurred vision and on evaluation was found to have X-linked retinoschisis (XLRS) with angle-closure glaucoma. Clinical and genetic evaluation of first-degree family members was done. His brother had a milder form of XLRS with shallow anterior chamber. Topical dorzolamide 2% and timolol 0.5% were used to control intraocular pressure. Genetic analysis revealed a novel three base pair deleterious mutation (c. 375_377 del AGA) in exon-5 of the RS1 gene in three members of the family.
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Objective@#To observe the clinical efficacy of digital 3D heads-up display viewing system(3D viewing system) and intraoperative OCT (iOCT) in vitrectomy for myopic foveoschisis (MF).@*Methods@#A retrospective, consecutive case series. From October 2018 to May 2019, Nineteen eyes of 19 consecutive patients with MF diagnosed in Xiamen Eye Center of Xiamen University who underwent vitrectomy were included in this study. There were 7 males and 12 females, with the mean age of 54.47±11.38 years. The average axial length was 30.40±2.30 mm, the mean logMAR BCVA was 0.56±0.31, the mean central foveal thickness (CFT) was 317.80±151.9.32 μm, the mean max retinal thickness (maxRT) was 556.7±143.7 μm. All the surgeries performed combined with 3D viewing system with iOCT. The standard 25G pars planar vitrectomy were performed with removing the posterior vitreous and indocyanine green (ICG) staining of internal limiting membrane (ILM) and air-fluid exchange. Thirteen of 19 eyes underwent fovea-sparing ILM peeling and the other 6 eyes not. The average follow-up was 4.2±1.4 months. All the patients were on regular follow-up to document the changes on BCVA, anatomical changes in macula, CFT and maxRT. Paired t test was used to compare BCVA, CFT and maxRT before and after surgery.@*Results@#The fine images of macula were clearly shown on the 3D viewing system in all eyes. The electronic green filter enhanced the contrast sensitivity of ICG stained images. Clear images of macula were captured by iOCT in all eyes. The average surgical time was 35.5±8.2 min. On the last follow-up, 16 of 19 eyes with MF resolved. The mean CFT was 178.5±103.5 μm, the maxRT was 341.8±83.8.16 μm, and the mean logMAR BCVA was 0.35±0.22. The differences of CFT, maxRT and logMAR BCVA before and after surgery were statistically significant (t=4.181, 7.154, 5.129; P<0.001). Minimal invisible full thickness macular hole were detected in 2 eyes by iOCT and repaired with auto serum or ILM flap covering. There was no complication associated with the 3D viewing system.@*Conclusions@#3D viewing system provides improved contrast and crystal clear macular image stain with ICG in pathological myopia. iOCT can detect the minimal invisible full thickness macular hole during surgery. Both may contribute to improved MF closure rate and BCVA.
ABSTRACT
Objective To observe the long-term clinical effect of pars plana vitrectomy combined with fovea-sparing internal limiting peeling in the treatment of macular foveoschisis in pathologic myopic. Methods A prospective case series study. Fifteen patients (15 eyes) with pathological myopic macular foveoschisis who received treatment in Eye Hospital of Wenzhou Medical University from December 2015 to December 2016 were enrolled. There were 4 males (4 eyes) and 11 females (11eyes), with an average age of 55.33±8.34 years. All patients underwent BCVA, diopter, spectral domain OCT and axial length measurement. The mean logMAR BCVA was 0.95±0.64. The mean central fovea thickness (CFT) was 576.00±185.32 μm. All patients underwent vitrectomy combined with fovea-sparing internal limiting peeling. After gas-liquid exchange, 12％ C3F8 was filled and followed up at 1, 3, 6 and 12 months after surgery. Follow-up time was more than 12 months. The structural changes of BCVA and macular area were observed.Results The foveal internal limiting membranes was successfully preserved in all eyes using the techinique. At the final follow-up, the CFT was 258.60±175.22 μm and the BCVA was 0.46±0.43, which were significantly improved compared with preoperative measurements (t=4.90, 5.20;P<0.001). Macular foveoschisis was resovled in 13 eyes. BCVA increased in 14 eyes. Internal limiting membranes proliferation and contraction occurred in 5 eyes and full-thickness macular hole occurred in 1 eye.Conclusions Pars plana vitrectomy with fovea-sparing internal limiting peeling is effective in the treatment of myopic macular retinoschisis. It can improve BCVA and CFT.
ABSTRACT
Objective To observe the clinical efficacy of digital 3D heads-up display viewing system (3D viewing system) and intraoperative OCT (iOCT) in vitrectomy for myopic foveoschisis (MF).Methods A retrospective,consecutive case series.From October 2018 to May 2019,Nineteen eyes of 19 consecutive patients with MF diagnosed in Xiamen Eye Center of Xiamen University who underwent vitrectomy were included in this study.There were 7 males and 12 females,with the mean age of 54.47± 11.38 years.The average axial length was 30.40±2.30 mm,the mean logMAR BCVA was 0.56±0.31,the mean central foveal thickness (CFT)was 317.80± 151.9.32 μm,the mean max retinal thickness (maxRT) was 556.7 ± 143.7 μm.All the surgeries performed combined with 3D viewing system with iOCT.The standard 25G pars planar vitrectomy were performed with removing the posterior vitreous and indocyanine green (ICG) staining of internal limiting membrane (ILM) and air-fluid exchange.Thirteen of 19 eyes underwent fovea-sparing ILM peeling and the other 6 eyes not.The average follow-up was 4.2 ± 1.4 months.All the patients were on regular follow-up to document the changes on BCVA,anatomical changes in macula,CFT and maxRT.Paired t test was used to compare BCVA,CFT and maxRT before and after surgery.Results The fine images of macula were clearly shown on the 3D viewing system in all eyes.The electronic green filter enhanced the contrast sensitivity of ICG stained images.Clear images of macula were captured by iOCT in all eyes.The average surgical time was 35.5± 8.2 min.On the last follow-up,16 of 19 eyes with MF resolved.The mean CFT was 178.5 ± 103.5 μm,the maxRT was 341.8 ± 83.8.16 μm,and the mean logMAR BCVA was 0.35 ± 0.22.The differences of CFT,maxRT and logMAR BCVA before and after surgery were statistically significant (t=4.181,7.154,5.129;P＜ 0.001).Minimal invisible full thickness macular hole were detected in 2 eyes by iOCT and repaired with auto serum or ILM flap covering.There was no complication associated with the 3D viewing system.Conclnsions 3D viewing system provides improved contrast and crystal clear macular image stain with ICG in pathological myopia,iOCT can detect the minimal invisible full thickness macular hole during surgery.Both may contribute to improved MF closure rate and BCVA.