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Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations.
Ophthalmic Genet. 2018 10; 39(5):615-618.OG

Abstract

BACKGROUND

Few reports on surgical outcomes after retinal detachment in Stickler syndrome exist. Also, infantile-onset glaucoma associated with Stickler syndrome has been rarely reported and no reports exist that examine outcomes after glaucoma surgery. This study describes the clinical and genetic associations and the long-term outcomes of retinal detachment repair or glaucoma surgery in patients with Stickler syndrome.

MATERIALS AND METHODS

Retrospective, single-center, case series of patients with Stickler syndrome. Demographics, clinical features, genetic mutations, and long-term surgical outcomes of eyes that experienced retinal detachment or diagnosed with infantile-onset glaucoma were assessed.

RESULTS

Fifteen patients were identified with a mean age of 13 years at presentation and followed for a mean of 6 years. Two-thirds were male. Genetic analysis was performed as part of routine examination in nine patients from eight families. All were identified as having variants in COL2A1, three of which were novel. Six eyes of six patients experienced retinal detachment. Fifty percent of eyes without prophylactic laser treatment experienced retinal detachment, whereas only 5% of eyes that underwent prophylactic therapy detached. Despite surgical intervention for retinal detachment, five eyes became phthisical. Five eyes of three patients were diagnosed with infantile-onset glaucoma. All five eyes required multiple glaucoma surgeries, and three eyes became phthisical.

CONCLUSIONS

This study illustrates the surgical challenges encountered in patients with Stickler syndrome. Additionally, infantile-onset glaucoma may be more prevalent than previously reported and presents a challenge in terms of management. A multidisciplinary approach is recommended to provide optimal care to these patients.

Authors+Show Affiliations

a Kellogg Eye Center, Department of Ophthalmology and Visual Sciences , University of Michigan , Ann Arbor , MI , USA.a Kellogg Eye Center, Department of Ophthalmology and Visual Sciences , University of Michigan , Ann Arbor , MI , USA.a Kellogg Eye Center, Department of Ophthalmology and Visual Sciences , University of Michigan , Ann Arbor , MI , USA.a Kellogg Eye Center, Department of Ophthalmology and Visual Sciences , University of Michigan , Ann Arbor , MI , USA.

Pub Type(s)

Clinical Trial
Journal Article

Language

eng

PubMed ID

30130436

Citation

Wubben, Thomas J., et al. "Retinal Detachment and Infantile-onset Glaucoma in Stickler Syndrome Associated With Known and Novel COL2A1 Mutations." Ophthalmic Genetics, vol. 39, no. 5, 2018, pp. 615-618.
Wubben TJ, Branham KH, Besirli CG, et al. Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations. Ophthalmic Genet. 2018;39(5):615-618.
Wubben, T. J., Branham, K. H., Besirli, C. G., & Bohnsack, B. L. (2018). Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations. Ophthalmic Genetics, 39(5), 615-618. https://doi.org/10.1080/13816810.2018.1509355
Wubben TJ, et al. Retinal Detachment and Infantile-onset Glaucoma in Stickler Syndrome Associated With Known and Novel COL2A1 Mutations. Ophthalmic Genet. 2018;39(5):615-618. PubMed PMID: 30130436.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations. AU - Wubben,Thomas J, AU - Branham,Kari H, AU - Besirli,Cagri G, AU - Bohnsack,Brenda L, Y1 - 2018/08/21/ PY - 2018/8/22/pubmed PY - 2019/4/11/medline PY - 2018/8/22/entrez KW - COL2A1 KW - Stickler syndrome KW - infantile-onset glaucoma KW - retinal detachment SP - 615 EP - 618 JF - Ophthalmic genetics JO - Ophthalmic Genet VL - 39 IS - 5 N2 - BACKGROUND: Few reports on surgical outcomes after retinal detachment in Stickler syndrome exist. Also, infantile-onset glaucoma associated with Stickler syndrome has been rarely reported and no reports exist that examine outcomes after glaucoma surgery. This study describes the clinical and genetic associations and the long-term outcomes of retinal detachment repair or glaucoma surgery in patients with Stickler syndrome. MATERIALS AND METHODS: Retrospective, single-center, case series of patients with Stickler syndrome. Demographics, clinical features, genetic mutations, and long-term surgical outcomes of eyes that experienced retinal detachment or diagnosed with infantile-onset glaucoma were assessed. RESULTS: Fifteen patients were identified with a mean age of 13 years at presentation and followed for a mean of 6 years. Two-thirds were male. Genetic analysis was performed as part of routine examination in nine patients from eight families. All were identified as having variants in COL2A1, three of which were novel. Six eyes of six patients experienced retinal detachment. Fifty percent of eyes without prophylactic laser treatment experienced retinal detachment, whereas only 5% of eyes that underwent prophylactic therapy detached. Despite surgical intervention for retinal detachment, five eyes became phthisical. Five eyes of three patients were diagnosed with infantile-onset glaucoma. All five eyes required multiple glaucoma surgeries, and three eyes became phthisical. CONCLUSIONS: This study illustrates the surgical challenges encountered in patients with Stickler syndrome. Additionally, infantile-onset glaucoma may be more prevalent than previously reported and presents a challenge in terms of management. A multidisciplinary approach is recommended to provide optimal care to these patients. SN - 1744-5094 UR - https://www.unboundmedicine.com/medline/citation/30130436/Retinal_detachment_and_infantile_onset_glaucoma_in_Stickler_syndrome_associated_with_known_and_novel_COL2A1_mutations_ L2 - https://www.tandfonline.com/doi/full/10.1080/13816810.2018.1509355 DB - PRIME DP - Unbound Medicine ER -