Rhegmatogenous Retinal Detachment in Pierre Robin Anomaly—A Suspicion for Stickler Syndrome: Case Report

Maryam A Hadi Almohsen,Fatema Bin Rajab

doi:10.4236/ojoph.2022.121006

Abstract

Stickler syndrome (SS) is an autosomal dominant inherited genetic disorder that presents with hearing loss, a cleft palate, epiphyseal dysplasia, and degeneration, similar to arthritis and well known to be associated with rhegmato-genous retinal detachments. A particular group of physical features called Pierre Robin sequence is also common in people with stickler syndrome. Pierre Robin sequence includes a cleft palate, glossoptosis, and micrognathia. We describe a case report of a family diagnosed with stickler syndrome presenting with Pierre Robin sequence and share some universal management steps for rhegmatogenous retinal detachment in stickler syndrome. Genetic testing is important to support the diagnosis and conduct screenings of family members.

Highlights

Stickler syndrome (SS) is an autosomal dominant inherited genetic disorder that presents with hearing loss, a cleft palate, epiphyseal dysplasia, and degeneration, similar to arthritis and well known to be associated with rhegmatogenous retinal detachments
We describe a case report of a family diagnosed with stickler syndrome presenting with Pierre Robin sequence and share some universal management steps for rhegmatogenous retinal detachment in stickler syndrome
Stickler syndrome is an inherited collagenopathy that was first described by Gunnar Stickler in 1956 as “hereditary progressive arthro-ophthalmopathy” [1]

Summary

Introduction

Stickler syndrome is an inherited collagenopathy that was first described by Gunnar Stickler in 1956 as “hereditary progressive arthro-ophthalmopathy” [1] It is associated with the defective formation of collagens II, IX and XI [2] [3] [4], presenting with a wide range of manifestations namely ophthalmic, musculoskeletal, craniofacial and auditory [4] [5]. Orofacial manifestations are variable clinically even within the same family presumably having the same genetic variant [11]. These include midfacial hypoplasia, depressed nasal bridge, long philtrum and mid-line clefting with or without Pierre Robin sequence, which is the triad of micrognathia, glossoptosis and airway obstruction [4] [5] [11]. The classic Type I stickler syndrome is related to COL2A1 and inherited in an AD mode

The Case

Discussion

Findings

Conclusion