DR. MITALI MANGOLI

DR. NAGBHUSHAN CHOUGULE, DR. DHRUV GOYAL, DR. ARYA WAKANKAR

Abstract

To evaluate the Ocular manifestations in patients of genodermatoses.

Methodology: It is a cross-sectional study. 49 diagnosed cases of Genodermatoses, age group 16-60 years, were included in the study. All patients underwent complete ophthalmic examination, including assessment of visual acuity, Anterior segment examination, and posterior segment examination.

Results: The most common condition noted was NF 1(23 cases) and NF 2 (18 cases). Other diseases seen were Dariers disease (1 case) Lamellar ichthyosis (7 cases) and Epidermal nevus syndrome (1 case). Cases of NF showed eyelid neurofibroma, Lisch nodules and optic nerve glioma. Cases of Lamellar Ichthyosis had xerophthalmia. Patient with Epidermal nevus syndrome showed rod-cone dystrophy.

Conclusion: The rarity of these conditions and lack of awareness are major obstacles in their evaluation and treatment. It is essential to have a complete assessment of these patients with respect to ocular manifestations.