Surgical Management In A Complex Congenital Panocular Malformation With Shh Mutation

To present a complex case of congenital panocular malformation phenotype associated with midline anatomical abnormalities, highlighting the challenges in surgical decision-making aimed at improving visual function and quality of life.

Tertiary referral ophthalmology center in Mexico City, with multidisciplinary management involving anterior segment, strabismus, visual rehabilitation, and genetics services.

A 26-year-old male presented with lifelong low vision. Medical history included microcephaly, conductive hearing loss, and surgical repair of cleft lip and palate. A younger sister had died from holoprosencephaly. Ophthalmic history revealed congenital cataract, iris coloboma, nystagmus, and congenital esotropia.

On examination, visual acuity was 2.0 LogMAR in both eyes, improving with pinhole to 1.0 in the right eye and 0.7 in the left eye. Bilateral slit-lamp examination showed microcornea, polycoria, congenital cataract with diffuse opacity, and grade II angles (Shaffer classification) with anterior synechiae. Intraocular pressure was normal, and the posterior pole was not assessable. Ocular ultrasound demonstrated inferonasal retinal coloboma in both eyes.

Bilateral phacoaspiration with intraocular lens implantation was performed one month apart. At six months postoperatively, visual acuity improved to 0.8 LogMAR. The patient was referred for visual rehabilitation and genetic evaluation. Direct sequencing of the SHH gene identified the variant C.731G>C (p.Arg244Pro).

Congenital panocular malformations may represent part of a broader neuroembryologic developmental spectrum. Even in structurally compromised eyes, individualized surgical management combined with visual rehabilitation and multidisciplinary follow-up