Isolated aniridia caused by a novel heterozygous deletion mediated by multi-exon complex rearrangement.

Purpose: Mutations in gene (chromosome 11p13) encoding a transcriptional regulator involved in oculogenesis mostly present with aniridia. Aniridia is not uncommon in the Philippines but only limited information is available as yet. The purpose of this study was to present a novel, deletion mediated by complex rearrangement in gene causing an isolated aniridia in a Filipino girl.

Novel compound heterozygous pathogenic variants in Filipino siblings with Bardet-Biedl syndrome (BBS).

Purpose: Bardet-Biedl syndrome (BBS) is rare in the Philippines and only limited information on the prevalent subtypes is available as yet. The purpose of this study is to present the clinical characteristics of two Filipino siblings presenting with mutations in .

Patients And Methods: The Filipino female siblings, aged 11 and 14 years underwent comprehensive ophthalmologic evaluation.

Macular cystoid spaces in patients with retinal dystrophy.

Background: Non leaking macular cystoid spaces (MCS) are seen in some retinal dystrophies. Carbonic anhydrase inhibitor (CAI) treatment may reduce the size of MSC and improve vision.

Methods: A retrospective study of patients with retinal dystrophy with MCS seen between 2009 and 2013 at two sites.

Organophosphate retinopathy.

Organophosphates have rarely been reported to cause various ocular sequelae including retinal degeneration. Retinal manifestations have been rarely reported and poorly characterized. We describe a case of a 76-year-old man with vision loss beginning in his 20s due to acute on chronic exposure to dimethoate, an organophosphate.

Anterior lentiplane associated with posterior lenticonus and microcornea.

We report a 12-year-old boy with a rare condition consisting of familial bilateral anterior lentiplane (a flat anterior lens capsule) posterior lenticonus, and microcornea.

Ocular manifestations of 22q11.2 microduplication.

Purpose: To report a new ocular manifestation of the dup22q11 syndrome and explore involved genes that may offer insight to mechanisms of pathogenesis.

Design: Case series.

Participants: Two male patients with this syndrome diagnosed with dup22q11.

Lyonization in ophthalmology.

Purpose Of Review: To describe the entity of Lyonization in ocular eye diseases, along with its clinical and counseling implications.

Recent Findings: Several X-linked ocular diseases such as choroideremia, X-linked retinitis pigmentosa, and X-linked ocular albinism may have signs of Lyonization on ocular examination and diagnostic testing. These findings may aid in the proper diagnosis of ocular disease in both female carriers and their affected male relatives.