Long-Term Outcome of Femtosecond Laser-Assisted Keratopigmentation: Using Intacs Channels for Precise Pigment Deposition Within the Cornea.

PURPOSE: To describe a long-term outcome of a new technique using the femtosecond laser to assist with keratopigmentation (corneal tattooing). METHOD: Nineteen eyes of 18 patients with a history of significant visual disability related to iris defects underwent femtosecond laser-assisted keratopigmentation (FAK) for functional restoration of their visual disabilities. Postoperative visual acuity and symptomatic resolution were collected during their postoperative visits. RESULTS: After FAK surgery, all patients had improvement in their previous visual-related symptoms. Eighteen of 19 eyes (94%) had improvement in their best-corrected Snellen visual acuity. Eight of 19 eyes (42%) had at least 1 line improvement, 8 of 19 eyes (42%) had at least 2 lines of improvement, and 2 of 19 eyes (10%) had at least 3 lines improvement. The average follow-up period was approximately 60 months. CONCLUSIONS: The FAK technique offers a long-term effective and safe technique for visual disabilities and improves visual acuity in patients with various traumatic iris defects.

Association of peripheral anterior synechiae with anterior segment parameters in eyes with primary angle closure glaucoma.

To investigate the association of peripheral anterior synechiae (PAS) with intraocular pressure (IOP) and anterior-segment parameters in subjects with primary angle-closure glaucoma (PACG). A total of 267 subjects with PACG were recruited and underwent gonioscopy and anterior-segment optical coherence tomography (ASOCT). Customized software was used to measure ASOCT parameters, including angle opening distance (AOD750) and trabecular-iris-space-area (TISA750) at 750 µm from the scleral spur, anterior chamber depth, width, area and volume (ACD, ACW, ACA, ACV), iris thickness (IT750), iris area (IAREA), and lens vault (LV). Presenting IOP was defined as the first IOP reading before the initiation of IOP-lowering treatment. The mean age of the 267 subjects was 67.0 ± 8.9 years, 140 (52.4%) were male, and 246 (92.1%) were of Chinese ethnicity. PAS was present in 122 (45.7%) subjects, and was most frequently found in the superior quadrant (79.5%). Subjects with PAS had greater presenting IOP (28.7 ± 12.9 vs 22.4 ± 9.7 mmHg, p < 0.001), narrower AOD750 (p < 0.001), smaller TISA750 (p < 0.001), ACD (p = 0.04), ACA (p = 0.02), ACV (p = 0.01) and larger LV (p = 0.01) compared to PACG eyes without PAS. No significant differences were noted for iris parameters. A multivariate logistic regression analysis showed that higher presenting IOP (ß = 0.20, p < 0.001), worse visual field mean deviation (ß = - 0.20, p = 0.01) and narrower AOD750 (ß = - 0.25, p = 0.03) were the only parameters that significantly correlated with the extent of PAS in clock hours. Almost one-half of the subjects with PACG demonstrated PAS; these eyes were associated with higher presenting IOP, smaller anterior segment dimensions and more severe disease.

Case Report: Modified Piggyback System to Treat Peripheral Iridotomies and Degenerative Myopia.

SIGNIFICANCE: This report details how a case with degenerative myopia and symptoms secondary to laser peripheral iridotomies is managed with a modified piggyback contact lens system. The benefits of using a system with tinted and gas-permeable (GP) lenses are discussed. PURPOSE: This study aimed to report the positive outcome of a modified piggyback system in the treatment of degenerative myopia and iris abnormalities. CASE REPORT: A patient with degenerative myopia presented with visual disturbances secondary to laser peripheral iridotomies in both eyes. A modified piggyback system was trialed using a corneal GP lens overlaying a tinted soft contact lens to provide optimal vision and visual comfort in both eyes. After optimizing the fit, there was a reduction in glare and improved vision. CONCLUSIONS: Hard contact lenses often provide superior optics and vision compared with soft lenses, especially to patients with high refractive errors. Patients who require hard lenses and also have visual disturbances secondary to iris abnormalities could be managed with a modified piggyback contact lens systems using a corneal GP lens and tinted soft lens.

Back to the Future: Vitreous Pupillary Block and Glaucoma in a Child After Lensectomy.

The authors present a case of poorly controlled glaucoma following lensectomy. An examination under anesthesia revealed iris bombe of the anterior vitreous face. This case helps emphasize the importance of a generous anterior vitrectomy at the time of lensectomy in the pediatric population to avoid secondary glaucoma. [J Pediatr Ophthalmol Strabismus. 2020;57:e48-e50.].

Neurofibromatosis tipos 1 y 2 / Neurofibromatosis type 1 and 2

La neurofibromatosis (NF) comprende un grupo de enfermedades genéticas de herencia autosómica dominante, que se clasifican de la siguiente manera: neurofibromatosis tipo 1 (NF1), neurofibromatosis tipo 2 (NF2) y schwannomatosis (también conocida como neurofibromatosis tipo 3). Esta última es una enfermedad muy infrecuente, con una prevalencia aproximada de 1/126 000 personas, por lo que solo profundizaremos las dos primeras. La NF1, también conocida como la enfermedad de Von Recklinghausen, es la más frecuente de las tres y afecta principalmente la piel y el sistema nervioso periférico. Se caracteriza por la presencia de máculas "café con leche", pecas axilares o inguinales, nódulos de Lisch (hamartomas en el iris) y neurofibromas (tumores de la vaina de nervios periféricos). Otras manifestaciones menos frecuentes, aunque de mayor gravedad, incluyen gliomas del nervio óptico, meningiomas, neurofibromas malignos, escoliosis y displasia de la tibia. Su diagnóstico se suele realizar al nacimiento o durante los primeros años de vida, y se estima que un 50% de quienes la padecen presenta dificultades cognitivas. No hay datos concluyentes sobre la mortalidad en los pacientes con NF1, aunque se sabe que la expectativa de vida es menor que en la población general. La NF2 tiene una prevalencia considerablemente menor que la NF1 y su inicio es más tardío, afectando principalmente a adultos jóvenes. La presentación clínica típica se caracteriza por acúfenos, hipoacusia y ataxia en contexto de la presencia de schwannomas vestibulares bilaterales. Otros hallazgos menos frecuentes incluyen schwannomas de nervios periféricos, meningiomas, ependimomas o astrocitomas. La esperanza de vida es de unos 36 años, con una supervivencia media desde el momento del diagnóstico de 15 años. (AU)

Neurofibromatosis (NF) includes a group of genetic diseases with an autosomal-dominant inheritance pattern, and they are classified as follows: Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and Schwannomatosis (also known as neurofibromatosis type 3). This last one is a very rare disease, with an approximate prevalence of 1/126000, so we will only deepen in the first two. NF1, also known as von Recklinghausen disease, is the most frequent, and mainly affects the skin and peripheral nervous system. Its typical manifestations are the presence of café-au-lait macules, axillary or inguinal freckles, Lisch nodules (hamartomas in the iris) and neurofibromas (peripheral nerve sheath tumors). Less frequent manifestations, although more serious, include optic nerve gliomas, meningiomas, malignant neurofibromas, scoliosis and tibial dysplasia. The diagnosis is usually made at birth or during the first years of life, and approximately 50% of patients present cognitive difficulties. There is no conclusive data on mortality in patients with NF1, although it is known that life expectancy is lower than in general population. NF2 has a considerably lower prevalence than NF1, and its onset is later in life, mainly affecting young adults. Its typical clinical presentation is characterized by tinnitus, hearing loss and ataxia in the context in the presence of bilateral vestibular schwannomas. Less frequent findings include peripheral nerve schwannomas, meningiomas, ependymomas or astrocytomas. Life expectancy is about 36 years old, with a median survival from the moment of diagnosis of 15 years. (AU)

Observation of treated iris neovascularization by swept-source-based en-face anterior-segment optical coherence tomography angiography.

We evaluated regression of iris neovascularization (INV) using en-face anterior-segment optical coherence tomography angiography (AS-OCTA) after anti-vascular endothelial growth factor (VEGF) therapy. Seven consecutive eyes with INV were examined before and after anti-VEGF therapy, and all AS-OCTA scans were obtained using a swept-source OCTA system with an anterior-segment lens adapter. Slit-lamp microscopy photography and anterior indocyanine green angiography also were performed. Quantitative analyses of the vascular density, vascular lacunarity, and fractal dimension on AS-OCTA images were performed. AS-OCTA visualized the INV as signals around the pupillary margin, which corresponded to the vasculature confirmed by slit-lamp microscopy. After anti-VEGF drug injection, regression of INV was observed by AS-OCTA in all eyes (100%). The vascular density decreased and vascular lacunarity increased significantly after anti-VEGF therapy. This pilot study demonstrated the ability of AS-OCTA not only to detect but also to evaluate INV. Further study is warranted to improve the algorithm for delineating the iris vasculature to decrease artifacts.

Evaluation of a Free Public Smartphone Application to Detect Leukocoria in High-Risk Children Aged 1 to 6 Years.

PURPOSE: To determine whether a white-eye detector smartphone application (app) can be used as a screening tool to detect early signs of leukocoria in a clinical practice. METHODS: A prospective, single-visit study of children aged 1 to 6 years presenting to the University Eye Clinic of Genova for a complete pediatric ophthalmologic examination was conducted. All children who met the enrollment criteria were screened by an orthoptist with the CRADLE (Computer Assisted Detector of Leukocoria) smartphone app for an iPhone operating system (iOS) (iPhone 7; Apple, Cupertino, CA). Cycloplegic retinoscopy and fundus examination were performed 30 minutes after one to two drops of a pediatric combination drop, comprising tropicamide 1% and phenylephrine 2.5%, were instilled. A comparison between the two methods yielded sensitivity, specificity, and negative likelihood ratio values. RESULTS: A total of 244 eyes of 122 children were included in the study. Nine eyes of 244 (3.6%) had leukocoria evaluable by penlight caused by amblyogenic cataract, 1 (0.4%) patient had retinopathy of prematurity stage 5, and 3 (1.2%) patients had retinoblastoma. The sensitivity of the white-eye detector app was 15.38% (95% confidence interval [CI]: 1.92% to 45.45%), the specificity was 100% (95% CI: 98.48% to 100.00%), and the negative likelihood ratio was 0.85 (95% CI: 0.67 to 1.07). CONCLUSIONS: A smartphone photoscreening app able to detect leukocoria may provide valuable support for children's parents. However, it cannot be considered an alternative to the ophthalmoscope for children. [J Pediatr Ophthalmol Strabismus. 2019;56(4):229-232.].

Long-term Results of Trabeculectomy With Mitomycin-C in Patients With Bilateral Acute Iris Transillumination.

PRéCIS:: The present study suggests that immediate trabeculectomy with mitomycin C (MMC) may be performed as a safe and effective intervention in the management of refractory ocular hypertension (OHT)/glaucoma in patients with bilateral acute iris transillumination (BAIT). PURPOSE: To report the long-term results of trabeculectomy with MMC in the management of OHT/glaucoma in patients with BAIT. MATERIALS AND METHODS: In total, 9 eyes of 6 patients with BAIT who underwent trabeculectomy with MMC between 2007 and 2015 were reviewed. Main outcome measures were control of intraocular pressure (IOP), the number of antiglaucomatous medications required to achieve the desired IOP, and complications. RESULTS: The postoperative follow-up time ranged between 2 and 9.5 years. IOP at presentation was >21 mm Hg in all patients. Maximum IOP with maximum antiglaucomatous medications during follow-up before surgery ranged between 36 and 55 mm Hg. At last visit, IOP ranged between 8 and 17 mm Hg, and 6 of 9 of the eyes required no antiglaucomatous medications. There was no failure in any patients according to the guidelines of the World Glaucoma Association. The most common complication was cataract formation in 7 eyes. CONCLUSIONS: The favorable outcomes observed during 2 to almost 10 years following surgical intervention are encouraging. Therefore, trabeculectomy with MMC provides long-term safe and effective results in OHT/glaucoma in patients with BAIT.

Cogan-Reese syndrome with Iris cyst: A novel presentation.

PURPOSE: To report an atypical case of Cogan-Reese syndrome associated with iris cyst in a young adult male. METHODS: Slit-lamp biomicroscopic examination, swept-source anterior segment optical coherence tomography (ASOCT) and ultrasound bio-microscopy (UBM) were done to evaluate and characterize the nature of the iris cyst. Gonioscopy, specular microscopy and confocal microscopy were attempted, but unsuccessful due to the large corneal opacity. RESULTS: On slit-lamp biomicroscopy, a large nasal corneal opacity with overlying band-shaped keratopathy was noted, with history suggestive of a trivial non-penetrating trauma and likely healed corneal ulcer. Through the temporal clear cornea, the iris displayed altered pattern with overlying shiny membrane and multiple, small, discrete, hyperpigmented, irregular nodules suggestive of Cogan-Reese syndrome. On the nasal side, an iris cyst with typical 'stuck-on appearance' onto the endothelium was visible. ASOCT and UBM failed to show any evidence of epithelial downgrowth or Descemet membrane disintegrity, ruling out the possibility of a post-traumatic implantation iris cyst. CONCLUSION: The occurrence of iris cyst in this case of Cogan-Reese syndrome is unique, and could be related to the disease pathogenesis, or a rare co-incidental finding.

Iris varix: 10-year experience with 28 eyes.

PURPOSE: The purpose of this study is to describe the clinical characteristics, multimodality imaging findings, and clinical course of iris varices. METHODS: Retrospective, noncomparative, observational case series of 28 eyes of 26 patients with iris varices, diagnosed between 2007 and 2017, has been used. RESULTS: The mean (±SD) age was 58.3 ± 12.5 years (median 57.5, range 37-81). Patients were 57.7% male and 27% hypertensive. Varices were bilateral in two patients. The mean and median visual acuities were both 20/20 (range 20/16-20/40). Intraocular pressures were 16 mmHg (10-23 mmHg). Secondary glaucoma did not occur. The inferotemporal iris quadrant was affected in 75%. A single varix was seen in 64% and 36% appeared multiple. Varix orientation was radial in 57% and circumferential in 21%. Combined radial and circumferential varix orientation was noted in 18%. One had independent radial and circumferential varices in separate quadrants. A single episcleral sentinel blood vessel directed to the varix was present in 36%. Ultrasound biomicroscopy (UBM) showed a slightly increased mean iris thickness of 0.8 mm and multiple echolucent iris stromal vascular channels. Iris angiography showed no leakage of dye. Managed by observation over a mean follow-up of 37.7 months (range, 3-129), 96.4% eyes were stable and one (3.6%) regressed. No corectopia, ectropion uveae, hyphema, or metachronous anterior segment benign or malignant tumors occurred. CONCLUSION: Iris varix is primarily located in the inferotemporal quadrant and not associated with dysmorphic pupillary findings, progression, secondary glaucoma, or malignancy. Iris varices were benign vasculopathies with no associated ocular or vision-related morbidity.

The role of sex in intraoperative floppy-iris syndrome.

PURPOSE: To compare the incidence of intraoperative floppy-iris syndrome (IFIS) between male and female patients undergoing phacoemulsification cataract surgery, evaluate risk factors for its appearance in each sex, and assess any differences in the final visual outcomes. SETTING: 2nd Department of Ophthalmology, Aristotle University of Thessaloniki, Greece. DESIGN: Comparative retrospective case-control study. METHODS: Cataract patients with recorded IFIS of any severity occurring over 4 years in a tertiary care ophthalmic center during phacoemulsification surgery were identified and enrolled in a multivariate analysis. RESULTS: The study comprised 3811 eyes of 3213 patients. Of the 1678 female patients (1937 eyes) undergoing cataract surgery, IFIS was observed in 25 eyes (1.29%), whereas the incidence of IFIS in male eyes during the same period was statistically significantly higher (97 [5.17%] of 1874 eyes) (P < .0001). No statistically significant difference in age was found between male patients (72.92 years ± 6.5 [SD]) and female patients (72.04 ± 7.1 years) (P = .56). An intake of α1-receptor blockers was identified in 70 (72.2%) of 97 male IFIS cases and in none of the 25 female IFIS cases (P < .0001). The posterior capsule rupture rate was significantly higher in 7 (28%) of the 25 female IFIS cases compared with 9 (9.28%) of the 97 male IFIS cases (P = .02). The posterior capsule rupture incidence and final corrected distance visual acuity (with spectacles) were shown to correlate with the IFIS severity grade only in female patients (P < .001 and P = .02, respectively). CONCLUSIONS: Although the incidence of IFIS is rarer in female patients, it might significantly affect an increase in the intraoperative events rate and affect the final visual outcome correlating with the severity grade of its appearance. Predisposing risk factors differ between the sexes and surgeons should always be aware of the potentially catastrophic consequences of unforeseen IFIS.

Residual Iris Retraction Syndrome After Artificial Iris Implantation.

PURPOSE: To evaluate the effect of an artificial iris implant on the remnant iris. DESIGN: Interventional case series. METHODS: Setting: Single center. PATIENT POPULATION: Forty-two consecutive patients. OBSERVATION PROCEDURES: Morphologic evaluation over 24 ± 14 months. MAIN OUTCOME MEASURES: Remnant pupillary aperture, iris color, visual acuity, intraocular pressure, and endothelial cell count. RESULTS: In 7 of 42 cases (16.7%), the residual iris aperture dilated from 36.6 ± 15.4 mm2 preoperatively to 61.1 ± 12.5 mm2 1 year postoperatively (66.9% increase). In 5 of 7 affected eyes the artificial iris had been implanted into the ciliary sulcus; in 2 eyes it had been sutured to the sclera. Four of the 7 patients presented with remarkable complications: 2 eyes needed glaucoma shunt surgeries owing to pigment dispersion; 1 suffered from recurrent bleedings; and in 1 case artificial iris explantation was performed owing to chronic inflammation. Anterior chamber depth and angle, endothelial cell count, and visual acuity did not change in this cohort. Changes in color were not observed in the remnant iris. CONCLUSIONS: The implantation of an artificial iris prosthesis can lead to a residual iris retraction syndrome. It is likely that residual iris is trapped in the fissure between the artificial iris and the anterior chamber angle, preventing further pupil constriction. Another possibility could be a constriction or atrophy of the residual iris. A scleral-sutured implant and an implantation in the capsular bag were both found to prevent the iris retraction. The study group number is inadequate to allow statistical comparison of these different implantation methods. As the use of artificial irises increases, we may expect more patients with iris retraction syndrome in the future.

Comparing safety and efficiency of two closed-chamber techniques for iridodialysis repair - a retrospective clinical study.

BACKGROUND: This study aims to compare the safety and effectiveness of two closed-chamber techniques for repairing iridodialysis. METHODS: Seventy five patients with iridodialysis undergoing surgery from February 2008 to October 2017 were included in this study. Patients were divided into two Groups, Group A (32 eyes) and Group B (35 eyes), with Group A using a 26-gauge hypodermic needle guided 10-0 nylon suture, and Group B using a double-armed polypropylene suture. Before operation and 1, 3, and 6 months after the operation, pupil shape, best corrected visual acuity (BCVA), intraocular pressure (IOP), the rate of endothelial cell loss, and intra- and postoperative complications were compared between two Groups during the follow-up period. RESULTS: Iridodialysis was repaired with pupil shape restored in all cases. IOP was normalized in all eyes except 2 eyes (6.3%) in Group A and 3 eyes (8.6%) in Group B. Postoperative rate of endothelial cell loss was not significantly different between two Groups (P > 0.05). The percentage of complicated cataract was not significantly different in Group A (2 eyes, 6.3%) compared to Group B (2 eyes, 5.7%) (χ2 = 0.009, P = 0.658). CONCLUSIONS: Both techniques for repairing iridodialysis not only were safe but also effective in improving visual function and cosmetic recovery. However, double-armed polypropylene suture might be less invasive than 26-gauge hypodermic needle guided suture.

Síndrome de misdirección del humor acuoso tras cirugía filtrante de glaucoma en paciente con síndrome de transiluminación aguda iridiana bilateral (BAIT) / Aqueous humor misdirection syndrome after glaucoma filtering surgery in patient with bilateral acute iris transillumination (BAIT) syndrome

CASO CLÍNICO: El síndrome BAIT (Bilateral Acute Iris Transillumination (transiluminación iridiana aguda bilateral) es una enfermedad caracterizada por dispersión pigmentaria severa aguda bilateral del iris y parálisis del esfínter pupilar. Mujer de 51 años diagnosticada de síndrome BAIT con hipertensión ocular refractaria en ojo izquierdo (OI) que precisa realización de cirugía filtrante. Durante la primera semana del postoperatorio desarrolla un cuadro de misdirección del humor acuoso, por lo que se procede a vitrectomía posterior vía pars plana, con resolución del mismo. CONCLUSIÓN: Presentamos el primer caso descrito en la bibliografía de síndrome de misdirección acuosa secundaria a cirugía filtrante de glaucoma en una paciente con síndrome BAIT, patología de reciente definición y con pocos casos descritos actualmente

CASE REPORT: Bilateral Acute Iris Transillumination (BAIT) is a disease characterised by bilateral acute, severe pigment dispersion of the iris, and pupil sphincter paralysis. The case is reported of a 51-year-old female who was diagnosed with BAIT syndrome, with refractory ocular hypertension in the left eye, and who needed filtering surgery. Aqueous misdirection was developed a week after surgery, then pars plana vitrectomy was performed and the complication was solved. CONCLUSION: This is the first case described in literature of aqueous humor misdirection syndrome secondary to glaucoma filtering surgery in a patient diagnosed of BAIT syndrome. This is a recently defined disease with a few cases currently described

Short Axial Length and Iris Damage Are Associated With Iris Posterior Synechiae After Descemet Membrane Endothelial Keratoplasty in Asian Eyes.

PURPOSE: To evaluate the frequency and severity of iris posterior synechiae after Descemet membrane endothelial keratoplasty (DMEK) and to investigate possible causes of iris posterior synechiae. METHODS: Twenty-three eyes were investigated in 20 Asian patients who underwent DMEK 1 month after phacoemulsification and intraocular lens implantation surgery. A preexisting iris damage score was defined by iris damage and classified into 5 grades. Six months after DMEK, the iris posterior synechiae severity score was evaluated based on the extent of posterior synechiae, according to every 45 degrees of the pupillary rim (posterior synechiae score, 0-8). Correlations were analyzed between the posterior synechiae score and preexisting factors (preexisting iris damage score, axial length [AXL], anterior chamber depth, and anterior chamber volume, both before and after cataract surgery). RESULTS: Iris posterior synechiae appeared in 20 of 23 eyes (87.0%). Best spectacle-corrected visual acuity significantly improved at 6 months after DMEK (P < 0.001). Endothelial cell density was 1596 ± 530 cells/mm (P < 0.001); loss of cell density was 37.8 ± 19.9% at 6 months. Single regression analysis showed that the onset of iris posterior synechiae was correlated with the preexisting iris damage score (P = 0.006, r = 0.55), AXL (P < 0.001, r = -0.71), anterior chamber depth (P < 0.001, r = -0.70), and anterior chamber volume before cataract surgery (P < 0.001, r = -0.79). CONCLUSIONS: Iris posterior synechiae after DMEK frequently appeared in Asian eyes with shorter AXLs or a damaged iris.

Bilateral acute iris transillumination following systemic administration of antibiotics.

OBJECTIVES: To describe the demographic characteristics, clinical features, and potential prognostic factors of bilateral acute iris transillumination (BAIT) following oral antibiotic uptake. METHODS: A retrospective study of 16 consecutive patients who developed BAIT following treatment with systemic antibiotics. Detailed past medical and ocular history was obtained, presenting signs and symptoms were documented and demographic characteristics were analyzed. All patients underwent a complete ocular examination and laboratory investigation. The course of best corrected visual acuity (BCVA), anterior chamber activity, and intraocular pressure (IOP) during the follow-up period were recorded and possible correlations with potential prognosticators were investigated. RESULTS: Fourteen females and two males were included in the present study. The mean age (SD) of the patients was 43 (14) years. All individuals presented conjunctival injection and photophobia and developed bilateral transillumination defects, fixed mid-dilated pupils and pigment dispersion in the anterior chamber. Systemic antibiotics were previously prescribed in all cases (13 patients with moxifloxacin and three patients with clarithromycin) and the mean (SD) interval between onset of symptoms and antibiotic administration was 17 (4) days. Ocular hypertension complicated all eyes and required antiglaucoma medication in 25 eyes. Severe anterior chamber pigment dispersion and higher IOP during the first week after presentation was significantly associated with longer duration of ocular hypertension (OHT) (p = 0.019). CONCLUSIONS: BAIT represents a rare clinical entity with characteristic features. Although etiopathogenesis of this condition remains unclear, a series of cases that indicate a strong correlation between systemic antibiotic administration and BAIT is herein presented.

De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.

PRR12 encodes a proline-rich protein nuclear factor suspected to be involved in neural development. Its nuclear expression in fetal brains and in the vision system supports its role in brain and eye development more specifically. However, its function and potential role in human disease has not been determined. Recently, a de novo t(10;19) (q22.3;q13.33) translocation disrupting the PRR12 gene was detected in a girl with intellectual disability and neuropsychiatric alterations. Here we report on three unrelated patients with heterozygous de novo apparent loss-of-function mutations in PRR12 detected by clinical whole exome sequencing: c.1918G>T (p.Glu640*), c.4502_4505delTGCC (p.Leu1501Argfs*146) and c.903_909dup (p.Pro304Thrfs*46). All three patients had global developmental delay, intellectual disability, eye and vision abnormalities, dysmorphic features, and neuropsychiatric problems. Eye abnormalities were consistent among the three patients and consisted of stellate iris pattern and iris coloboma. Additional variable clinical features included hypotonia, skeletal abnormalities, sleeping problems, and behavioral issues such as autism and anxiety. In summary, we propose that haploinsufficiency of PRR12 is associated with this novel multisystem neurodevelopmental disorder.

Active iris vascular tufts bleeding successfully treated with argon laser photocoagulation.

PURPOSE: Iris vascular tufts (IVT) are rare biomicroscopic capillary outgrowths from the pupillary margins. Patients are usually asymptomatic until presenting with blurred vision due to spontaneous hyphema or with raised intraocular pressure. CASE REPORT: A 61-year-old woman presented to eye casualty with left eye (LE) blurred vision and discomfort for 1 day. Her external ocular examination was unremarkable and visual acuity was 6/6 in the right eye (RE) and 6/9 in the LE. Biomicroscopic examination revealed a 2-mm hyphema in her LE and bilateral multiple small IVT and active bleeding from IVT at the pupillary margin of the LE at the 5 o'clock position. Diagnosis of LE active bleeding from IVT was made and she underwent argon laser photocoagulation directed at the source of bleeding. The bleeding stopped immediately after the second burn. She was followed up for 3 months; her visual acuity was 6/5 and 6/6 in the RE and LE, respectively, with no further problems. CONCLUSIONS: Iris vascular tufts are benign and recurrent hemorrhages are unlikely. Therefore, definitive argon laser photocoagulation or surgical treatment are reserved to arrest further episodes of hyphema. Our case demonstrates the effective use of argon laser photocoagulation to completely arrest active bleeding from IVT and excellent recovery of hyphema with no further problems for 5 years.

Forceps trauma in a newborn presenting as iris heterochromia.

Birth-associated ocular trauma is common and often minor, including subconjunctival and retinal haemorrhage and eyelid edema. Significant ocular trauma during birth, usually associated with forceps-assisted delivery, is rarer and can include Descemet's membrane rupture, lid lacerations, hyphema, Purtcher retinopathy, facial nerve palsy, corneal edema, and corneal laceration. We report the first case of ocular birth trauma from forceps presenting as isolated iris heterochromia and a pseudo rubeosis iridis, which completely resolved by 1 month of age with no known adverse ocular sequelae.