Case Report - Ophthalmology Case Reports (2025) Volume 9, Issue 3
Fraser syndrome: A rare case of syndromic cryptophthalmos.
Fraser syndrome is a rare ophthalmic presentation with autosomal recessive inheritance. It is observed in 1 in 200,000 newborns accounting for 1 in 10,000 fetal deaths. Mutation in the FRAS1 gene, retinoids, maternal vitamin A deficiency play a role. Globally only few cases are reported. A 20-day-old child born to non-consanguineous parents was referred from the newborn care unit He suffered from perinatal asphyxia. There was no maternal history of radiation, trauma, or drug exposure. On examination, bilateral complete cryptophthalmos, hypertelorism, and head circumference below the third percentile were observed. Additionally, syndactyly cleft palate, dysplastic ears, umbilical hernia, and anorectal defects were identified. Imaging modalities revealed a rudimentary globe, no orbital cyst with the absence of the crystalline lens in the left eye. Unilateral renal agenesis and cryptorchidism were discovered. He was managed conservatively. Three staged reconstructive surgeries with MMG were planned. Genetic counseling of parents was followed. Fraser syndrome can be diagnosed by antenatal ultrasound at 13 weeks of gestation. In families with previously affected children or stillbirths, ultrasounds are crucial at 14-16 weeks. Ocular treatment is multifaceted, determined by the degree of exposure to keratopathy and the presence of visual potential.
Author(s):Subhojit Chakraborty*