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Stickler syndrome: an underdiagnosed disease. Report of a family.

Abstract

PURPOSE

To report a family diagnosed with Stickler syndrome. To emphasize that early recognition of patients with Stickler syndrome could improve the visual outcome.

METHODS

Case report.

RESULTS

A 14 year old girl of Mahgrebian origin presented with a longstanding subtotal RRD in the right eye. Subsequently 6 family members in 3 generations have been identified with the same COL2A1 mutation. 4 eyes lost perception of light and 1 eye was enucleated. Stickler syndrome is the commonest inherited cause of rhegmatogenous retinal detachment (RRD). These tend to be complex and to occur at young age, frequently affecting both eyes. Other ocular features consist of high myopia, optically empty vitreous cavity, posterior radial paravascular lattice-type degeneration, cataract and glaucoma. Non-ocular findings include midface hypoplasia, musculoskeletal changes and hearing loss. In severe cases the disorder will readily be suspected. In mildly affected patients, clinical diagnosis can be quite difficult. Therefore, all family members of a Stickler patient should be offered molecular genetic testing. Stickler patients benefit from a multidisciplinary approach, including audiologic examination. They should be informed about the symptoms associated with retinal tears and retinal detachment and have priviliged access to the ophthalmic care unit. In case of RRD, vitrectomy is the preferred surgery. Prophylaxis of RRD in Stickler syndrome patients consisting of a 360 degrees peripheral cryotherapy or photocoagulation has been proposed. Practical guidelines for follow up or thresholds for initiating treatment have not been formulated.

CONCLUSIONS

Stickler syndrome remains under-diagnosed. Hightened awareness of Stickler syndrome could improve visual outcome in affected individuals and makes genetic counseling possible

Authors+Show Affiliations

Department of Ophthalmology, Antwerp University Hospital, Edegem, Belgium. tomasdekeyzer@hotmail.comNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

22003765

Citation

De Keyzer, T H W., et al. "Stickler Syndrome: an Underdiagnosed Disease. Report of a Family." Bulletin De La Societe Belge D'ophtalmologie, 2011, pp. 45-9.
De Keyzer TH, De Veuster I, Smets RM. Stickler syndrome: an underdiagnosed disease. Report of a family. Bull Soc Belge Ophtalmol. 2011.
De Keyzer, T. H., De Veuster, I., & Smets, R. M. (2011). Stickler syndrome: an underdiagnosed disease. Report of a family. Bulletin De La Societe Belge D'ophtalmologie, (318), 45-9.
De Keyzer TH, De Veuster I, Smets RM. Stickler Syndrome: an Underdiagnosed Disease. Report of a Family. Bull Soc Belge Ophtalmol. 2011;(318)45-9. PubMed PMID: 22003765.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Stickler syndrome: an underdiagnosed disease. Report of a family. AU - De Keyzer,T H W, AU - De Veuster,I, AU - Smets,R-M E, PY - 2011/10/19/entrez PY - 2011/10/19/pubmed PY - 2012/2/15/medline SP - 45 EP - 9 JF - Bulletin de la Societe belge d'ophtalmologie JO - Bull Soc Belge Ophtalmol IS - 318 N2 - PURPOSE: To report a family diagnosed with Stickler syndrome. To emphasize that early recognition of patients with Stickler syndrome could improve the visual outcome. METHODS: Case report. RESULTS: A 14 year old girl of Mahgrebian origin presented with a longstanding subtotal RRD in the right eye. Subsequently 6 family members in 3 generations have been identified with the same COL2A1 mutation. 4 eyes lost perception of light and 1 eye was enucleated. Stickler syndrome is the commonest inherited cause of rhegmatogenous retinal detachment (RRD). These tend to be complex and to occur at young age, frequently affecting both eyes. Other ocular features consist of high myopia, optically empty vitreous cavity, posterior radial paravascular lattice-type degeneration, cataract and glaucoma. Non-ocular findings include midface hypoplasia, musculoskeletal changes and hearing loss. In severe cases the disorder will readily be suspected. In mildly affected patients, clinical diagnosis can be quite difficult. Therefore, all family members of a Stickler patient should be offered molecular genetic testing. Stickler patients benefit from a multidisciplinary approach, including audiologic examination. They should be informed about the symptoms associated with retinal tears and retinal detachment and have priviliged access to the ophthalmic care unit. In case of RRD, vitrectomy is the preferred surgery. Prophylaxis of RRD in Stickler syndrome patients consisting of a 360 degrees peripheral cryotherapy or photocoagulation has been proposed. Practical guidelines for follow up or thresholds for initiating treatment have not been formulated. CONCLUSIONS: Stickler syndrome remains under-diagnosed. Hightened awareness of Stickler syndrome could improve visual outcome in affected individuals and makes genetic counseling possible SN - 0081-0746 UR - https://www.unboundmedicine.com/medline/citation/22003765/Stickler_syndrome:_an_underdiagnosed_disease__Report_of_a_family_ L2 - https://medlineplus.gov/retinaldetachment.html DB - PRIME DP - Unbound Medicine ER -