DR. RUPA GUPTA

Dr. Aparajita Banerjee

Abstract

INTRODUCTION-FRASER SYNDROME or cryptophthalmos-syndactyly syndrome is a rare genetic disorder. CASE- A 2 month old female baby was referred to our department for assessment of UNILATERAL CRYPTOPHTHALMOS. EXAMINATION- COMPLETE UNILATERAL CRYPTOPHTHALMOS of right eye was found to be associated with CUTANEOUS SYNDACTYLY of both hands, UMBILICAL HERNIA, DEPRESSED NASAL BRIDGE. Ocular examination also showed-Absent eyebrows of right side, HYPERTELORISM, absent lacrimal drainage system of right eye. Based on clinical presentation- diagnosis of FRASER SYNDROME was made. DISCUSSION- Cryptophthalmos is an extremely rare autosomal recessive ocular disorder which may occur isolated or as a part of FRASER SYNDROME. caused by mutation in FRAS1;FREM2;GRIP1 genes. Incidence is very low. Affected patients have a very poor visual outcome. CONCLUSION- as it can be diagnosed before birth by USG at 18 weeks; proper counselling plays a key role. surgical intervention- to improve cosmetic appearance.

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