Evaluation of pediatric cataracts and systemic disorders.

PURPOSE OF REVIEW: The purpose of this review is to outline those systemic disorders with associated cataracts to help in the evaluation and diagnosis of the patient with pediatric cataract who has systemic abnormalities. RECENT FINDINGS: With the profound advancement in genetics, both making and confirming a diagnosis in rare syndromic disorders have become even more possible. By diagnosing a syndromic cataract, the patient and family members are afforded the opportunity to obtain a better understanding of their disorder as well as develop expectations as to the course of their child's disorder. SUMMARY: The intent of this article is to act as a resource for helping to determine the cause of cataracts based on the lens appearance, age of onset and systemic findings. Children with cataracts, especially when bilateral, require a comprehensive history and ophthalmic examination with physician awareness toward other organ system involvement. A basic assessment of facial, skeletal, genitourinary, gastrointestinal and integumentary abnormalities is beneficial. In this review, there are numerous tables that are to act as a resource in developing a differential diagnosis and guide further systemic and genetic 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. Patients had ophthalmic examination, optical coherence tomography (OCT) and genetic testing. Patients with vision worse than 20/30 were treated with CAI. Post treatment visual acuity (VA), central foveal zone (CFZ) thickness, and qualitative estimation of MCS size were assessed. RESULTS: Eighteen patients, 6-47 years old, were included. IVFA was performed in 15 (83%) patients. Of the 26 eyes in 13 patients who were treated and followed, VA improved in 15 eyes (58%) of 10 patients. Ten of these 15 eyes had decreased CFZ thickness and 9/10 showed qualitative MCS improvement. Regression analysis showed that change in CFZ thickness was not significantly predictive of change in final visual acuity (p = 0.405). Five of 15 eyes with improved VA had paradoxically increased CFZ thickness and 2/5 had enlarged MCS. Three of the treated eyes (11%) in two patients had decreased VA with decreased CFZ thickness and improved MCS in 2/3 eyes. Eight eyes (31%) in six patients showed no change in VA with decreased CFZ thickness in 6/8 eyes with improved MCS. Genetic testing showed mutations of NR2E3, XLRS, CRB1, GPR98 and CNGB1. CONCLUSION: Non-leaking MCS occur in a variety of retinal dystrophies. Therapy with topical or systemic CAI has variable efficacy and may result in VA improvement with or without qualitative improvement in MCS and CFZ thickness.