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.

PITX2 and FOXC1 spectrum of mutations in ocular syndromes.

Anterior segment dysgenesis (ASD) encompasses a broad spectrum of developmental conditions affecting anterior ocular structures and associated with an increased risk for glaucoma. Various systemic anomalies are often observed in ASD conditions such as Axenfeld-Rieger syndrome (ARS) and De Hauwere syndrome. We report DNA sequencing and copy number analysis of PITX2 and FOXC1 in 76 patients with syndromic or isolated ASD and related conditions.

Macular cysts in retinal dystrophy.

Purpose Of Review: To describe the entity of macular cysts in retinal dystrophy, differentiate it from cystoid macular edema (CME), and review the role of carbonic anhydrase inhibitors in management.

Recent Findings: Macular cysts in retinal dystrophy are seen in retinopathies caused by mutations in the NR2E3 gene, juvenile X-linked retinoschisis (XLRS), and some other retinal dystrophies. These must be distinguished from CME.

Taking the family history in genetic disease: a guide for ophthalmologists.

Purpose Of Review: The family pedigree is an important tool in the field of ophthalmology. Recent advances in genetic testing for ophthalmic conditions underlie the need to offer genetic testing to patients when appropriate. Future availability of gene therapy for some ocular diseases further illustrates the importance of gene testing for patients seen in the ophthalmology clinic.

Albinism for the busy clinician.

Albinism is a group of disorders characterized principally by its ophthalmic features with or without systemic manifestations. Persons with albinism manifest a wide variety of phenotypes and limited number of genotypes. Modern molecular genetics has encouraged a new classification and understanding of the subtypes of these disorders.