Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist

Abstract

The entity described by Gunnar Stickler, which included hereditary arthro-ophthalmopathy associated with retinal detachment, has recently been recognised to consist of a number of subgroups, which might now more correctly be referred to as the Stickler syndromes. They are the most common clinical manifestation of the type II/XI collagenopathies and are the most common cause of inherited rhegmatogenous retinal detachment. This review article is intended to provide the ophthalmologist with an update on current research, subgroups, and their diagnosis together with a brief overview of allied conditions to be considered in the clinical differential diagnosis. We highlight the recently identified subgroups with a high risk of retinal detachment but with minimal or absent systemic involvement--a particularly important group for the ophthalmologist to identify.

Figure 1

Schematic illustration of vitreous phenotypes. (a) (top left) Membranous congenital vitreous anomaly, (b) (bottom left) Beaded congenital vitreous anomaly, (c) (top right) Hypoplastic congenital vitreous anomaly, (d) (bottom right) Normal vitreous architecture: compact lamellar array. Reproduced with permission from Richards et al.

Figure 2

Algorithm for gene selection and mutation analysis in Stickler syndrome based on vitreous phenotype.

Figure 3

Congenital quadrantic lamellar cataract. Typical of Stickler syndrome, but does not differentiate between subtypes.

Figure 4

Giant retinal tears in patients with type 1 Stickler syndrome.

Figure 5

Posterior vitreous detachment in type 1 Stickler syndrome. Posterior hyaloid membrane (PHM) (arrow head) visible as a second membrane behind type 1 congenital membranous vitreous anomaly (arrow). In type 2 Stickler syndrome, the ophthalmologist should be wary of mistakenly confusing PHM with type 1 anomaly—examination of fellow eye may help.

Figure 6

Subclinical midline cleft in type 1 Stickler syndrome. The patient was unaware of their palate abnormality.

Figure 7

Kniest dysplasia. Note severe arthropathy and characteristic interphalangeal epiphyseal dysplasia.

Figure 8

Occipital encephalocoele in Knobloch syndrome—a type XVIII collagenopathy associated with vitreoretinopathy and retinal detachment. Left inferior macular off retinal detachment.

Figure 9

Pseudo exotropia in Wagner syndrome. Reproduced with permission from Meredith et al.