Erin D. Stahl

BASICS

DESCRIPTION

Constellation of findings including particular vitreous abnormalities, high myopia, and retinal detachment

EPIDEMIOLOGY

Incidence

1 in 7,500–9,000 newborns

RISK FACTORS

Genetics

• Type 1: STL1 (classic, membranous vitreous) 12q13.11–13.2, COL2A1 gene, autosomal dominant

• Type 2: STL2 (+/- ocular, beaded vitreous) 1p21, COL11A1, autosomal dominant

• Type 3: STL3 (nonocular) 6p21.3, COL11A2, autosomal dominant

• Autosomal recessive form with ocular involvement, 6q13, COL9A1

• Mutations in COL11A2 also cause variants: Weissenbacher–Zweymuller syndrome (neonatal form with distinctive skeletal findings), Marshall syndrome (short stature, hearing loss), Marshall/Stickler

GENERAL PREVENTION

• Genetic counseling and/or prenatal testing (if mutation in family known)

• Fetal facial abnormalities may be detected by ultrasound in the second trimester (1).

PATHOPHYSIOLOGY

Defect in collagen biosynthesis collagen types 2, 9, and 11 expressed in vitreous. COL2A1 mutations must involve exon 2 for eye involvement as this exon is not incorporated in nonocular tissues.

COMMONLY ASSOCIATED CONDITIONS

• Ocular

– Myopia (90%) (2), with or without pathologic myopia

– Vitreous condensation (membranous, beaded, veils)

– “Optically empty” vitreous

– Retinal detachment (60%) (2)

– Glaucoma

– Cataract (usually peripheral cortical wedge)

– Radial retinal lattice

– Rare: retinal degeneration

• Nonocular

– Hearing loss (70%) (2)

– Facial abnormalities (midline clefting, Pierre Robin sequence, bifid uvula) (84%) (2)

– Mitral valve prolapse

– Arthritis, large joints (90%) (2)

– Slender extremities, long fingers, and normal/tall height

DIAGNOSIS

HISTORY

Family and patient history of high myopia, retinal detachment, arthritis, cleft palate, hearing loss

PHYSICAL EXAM

• Full ocular examination including attention to vitreous abnormalities at slit lamp (veils [best by indirect ophthalmoscopy], beading, membranes optical clarity)

– Cycloplegic refraction

– Peripheral retinal examination looking for perivascular lattice-like degeneration and retinal breaks

– Intraocular pressure (IOP) measurement and optic nerve examination

– Physical exam with attention to joint dysfunction, abnormal facial features, hearing, clefting of palate/uvula, and heart murmur

TREATMENT

MEDICATION

• None for the primary disorder but may need treatment for secondary concerns such as glaucoma

• Avoid miotics to avoid additional strain on the peripheral vitreoretinal interface.

ADDITIONAL TREATMENT

General Measures

• Refractive correction, treatment of amblyopia (if present), low vision aids if necessary

• Educate patient on warning signs and symptoms of retinal detachment.

• Every 6 months to yearly full ocular examination with dilated fundus exam, optic nerve evaluation, refraction, and IOP measurement

SURGERY/OTHER PROCEDURES

• Surgical repair of retinal detachment—retinal detachment may reveal multiple severe retinal breaks, prompt referral to retinal specialist is necessary.

• Prophylactic retinopexy, if indicated

• Cataract extraction–-NOTE: elevated risk for postoperative retinal detachment

• Medical/surgical treatment of glaucoma

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

• Educate patient on the need for routine (every 6 months to yearly) ophthalmologic examination to detect retinal breaks.

• Prompt evaluation should symptoms of impending retinal detachment occur (floaters, photopsia, vision changes)

– Genetics consult

– Maxillofacial assessment for midline clefting if suspected

– Rheumatology consult if joint disease present

– Audiology for hearing testing

– Examine parents/siblings (3)

PATIENT EDUCATION

• Educate on the signs and symptoms of retinal detachment and the need for prompt examination if these occur.

• Some ophthalmologists may recommend avoidance of direct contact sports such as boxing and wrestling to reduce the risk of retinal detachment (no clear data, practice patterns vary).

• Consider recommendation against refractive surgery as tissue response is unknown and may have thinner central cornea thickness.

• May benefit from protective eyewear when engaging in other sports

• Genetic counseling

• Family support network http://www.sticklers.org/sip2

PROGNOSIS

• Risk for retinal detachment is greater than 50%.

• Morbidity most common from visual dysfunction, 4% blind (1)

• Visual acuity depends on incidence of retinal detachment and success in surgical management.

• Decreased visual acuity may also occur due to refractive amblyopia if refractive error is not corrected.

COMPLICATIONS

• Retinal detachment

• Glaucoma

• Cataract

Stay updated, free articles. Join our Telegram channel

Join