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Pierson syndrome (PS) is a rare autosomal recessive disease, characterized by congenital nephrotic syndrome (CNS), and ocular and neurologic abnormalities. In affected cases, there is abnormal b-2 laminin which is compound of the several basement membranes caused by inherited mutations in the LAMB2 gene. Although patients have mutations in the same gene, the phenotype is highly variable. In this case series, the relationship between genotype and phenotype is emphasized, and information about the clinical follow-up of the patients is presented. Hereby, we report four pediatric cases with PS as a result of mutation in the LAMB2 gene. Clinical spectrum of LAMB2-associated disorders varies from mild-to-severe ocular, kidney, and neurologic involvement. Since genotype-phenotype correlation in PS has not been clearly demonstrated, we recommend that all patients with ophthalmic anomalies and glomerular proteinuria should be tested for LAMB2 mutations., (© 2023. The Author(s), under exclusive licence to Japanese Society of Nephrology.)

Purpose: To investigate the clinical and histopathological features of congenital fibrovascular pupillary membrane (CFPM) in Chinese patients., Methods: This retrospective study reviewed CFPM cases treated at Beijing Children's Hospital. The clinical manifestations, approaches of treatment, outcomes, and histopathological findings were collected and analyzed., Results: A total of 33 patients with CFPM were reviewed. All patients had unilateral eye involvement. A total of 21 eyes (63.64%) had a white membrane that partially covered the pupil and 12 eyes (36.36%) had a membrane that completely covered the pupil. Of the 12 eyes with a complete pupillary membrane, 6 (50%) had glaucoma. For eyes with a partial pupillary membrane, 11 eyes (52.38%) were followed up at the outpatient clinic without surgery and 10 eyes (47.62%) underwent membranectomy and pupilloplasty due to visual axis blockage. For the 12 eyes with a complete pupillary membrane, 6 eyes (50%) with normal intraocular pressure (IOP) received membranectomy and pupilloplasty combined with iridectomy, and 1 (16.67%) of these 6 eyes underwent a reoperation after 5 months due to a recurrent membrane. Furthermore, 6 eyes (50%) with glaucoma had membranectomy, pupilloplasty, iridectomy, and goniosynechialysis. Among these 6 eyes, 2 eyes (33.33%) underwent a reoperation due to the recurrence of a membrane and 4 eyes (66.67%) had a pale optic disc. The histopathological findings revealed that these membranes were mainly composed of fibrous tissue, lymphocytes, pigment epithelial cells, and vascular tissues., Conclusions: CFPM has diverse manifestations, including a partial pupillary membrane, a complete pupillary membrane with normal IOP, and a complete pupillary membrane with glaucoma. Timely diagnosis and treatment are critical when the visual axis is blocked and/or the IOP is high. [ J Pediatr Ophthalmol Strabismus . 2021;58(2):105-111.] .

Morning glory disk anomaly is a nonhereditary, congenital optic disk dysplasia characterized by conical excavation of the posterior fundus with a central glial tuft and radial retinal vessels. We report the case of a 4-year-old girl who presented with esotropia, enophthalmos, no light perception, and afferent pupillary defect in her left eye; fundus examination revealed morning glory disk anomaly. Ultrasound B-scan showed axial length increasing in the left eye on consensual light exposure. Magnetic resonance imaging/angiogram of the brain and orbits were within normal limits except for globe elongation posteriorly in the left eye. On examination under anesthesia with video indirect ophthalmoscopy, the left optic disk showed contraction and expansion when stimulated by strong light to the fellow eye and no spontaneous contraction on direct light stimulation. Morning glory disk contractility with increasing axial length on consensual light exposure in a child has not been reported previously., (Copyright © 2018 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.)

Competing Interests: There are no conflicts of interest.

A 19-year-old female had been treated conservatively for a pupillary abnormality in early childhood. At the age of 4, slit-lamp examination had shown a persistent pupillary membrane in the right eye. Now she presented with a visual acuity of 1/300 in the right eye.

A 2-month-old boy presented with an irregular left pupil. Over the course of 3 months, progressive pupil ovalization, corectopia, and ballooning of the thinned superior iris tissue caused obstruction of the visual axis. Because of concern for deprivational amblyopia, a sectoral pupilloplasty and sphincterotomies were performed, restoring pupil shape and clearing the visual axis. On postoperative examinations, the pupil remained round, the visual axis clear, and visual acuity of the left eye improved. Findings and clinical course suggested the diagnosis of idiopathic tractional corectopia, a rare congenital disorder of unknown cause that may lead to isolated unilateral progressive corectopia and visual axis obstruction. Patients should receive regular follow-up examinations., (Copyright © 2016 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.)

Background: Aicardi syndrome is a rare X-linked disorder that has been characterized classically by agenesis of the corpus callosum, seizures, and the finding of chorioretinal lacunae. This triad has been augmented more recently by central nervous system and ocular findings. The goal of this study was to determine how frequently other ophthalmologic findings are associated with Aicardi syndrome., Methods: A single ophthalmologist recorded the ocular and adnexal findings of 40 girls with this disorder at the annual meeting of an Aicardi syndrome family support group. For each subject, the examiner performed facial anthropometrics, portable biomicroscopy, and, where feasible, indirect ophthalmoscopy., Results: The most common findings were chorioretinal lacunae in 66 (88%) of 75 eyes and optic nerve abnormalities in 61 (81%) of 75 eyes. Other less common findings included persistent pupillary membrane in 4 (5%) of 79 eyes and anterior synechiae in 1 of 79 eyes (1%)., Conclusions: Although the ophthalmic hallmark and defining feature of Aicardi syndrome is the cluster of distinctive chorioretinal lacunae surrounding the optic nerve(s), the spectrum of ocular, papillary, and retinal anomalies varies widely, from nearly normal to dysplasia of the optic nerve and to severe microphthalmos., (Copyright © 2012 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.)

Purpose: To study the ocular phenotype of Pierson syndrome and to increase awareness among ophthalmologists of the diagnostic features of this condition., Design: Retrospective, observational case series., Methods: A multicenter study of 17 patients with molecularly confirmed Pierson syndrome. The eye findings were reviewed and compared to pertinent findings from the literature., Results: The most characteristic ocular anomaly was microcoria. A wide range of additional abnormalities were found, including posterior embryotoxon, megalocornea, iris hypoplasia, cataract, abnormal lens shape, posterior lenticonus, persistent fetal vasculature, retinal detachment, variable axial lengths, and glaucoma. There was high interocular and intrafamilial variability., Conclusions: Loss-of-function mutations in laminin beta2 (LAMB2) cause a broad range of ocular pathology, emphasizing the importance of laminin beta2 in eye development. Patients with Pierson syndrome can initially present with ocular signs alone. In newborns with marked bilateral microcoria, Pierson syndrome should be considered and renal function investigated.

We report 3 siblings from a nonconsanguineous white family with bilateral persistent pupillary membranes with dissimilar forms of severity. Two of the patients required no treatment; 1 was treated surgically for occlusion of the pupillary axis and moderate visual acuity decrease. Anterior segment examination was otherwise normal in the siblings. Although persistent pupillary membranes are usually sporadic, cases in which they are associated with other anterior chamber abnormalities might be inherited autosomal dominant. To our knowledge, this is the first report of a familial isolated persistent papillary membrane case with no other anterior chamber abnormality.

We report a case of a 14-year-old girl who presented with impaired vision in the left eye since birth. Examination showed extensive bilateral persistent pupillary membranes associated with microcornea, cornea plana, and central localized posterior keratoconus in both eyes. The uncorrected visual acuity was 0.2 (logMAR) (20/32) in the right eye and 1.9 (logMAR) (20/1300) in the left eye, with no improvement with pinhole. Surgical excision of the membranes was done in both eyes using vitreous microscissors. At 6 months, the best corrected visual acuity was 0.1 (logMAR) (20/25) in the right eye and 1.3 (logMAR) (20/400) in the left eye. No significant intraoperative or postoperative complications were noted.