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Severe retinitis pigmentosa with posterior staphyloma in a family with c.886C>A p.(Lys296Glu) RHO mutation.
Ophthalmic Genet 2019; 40(4):365-368OG

Abstract

Background:

Posterior pole staphylomata (PSS) is an outward bulging of ocular wall, rarely reported in association with inherited retinal degenerations. Patients and methods: We report a large French family of Jewish ancestry with a peculiar form of dominant retinitis pigmentosa (RP) and posterior pole staphyloma (PPS). Eight members were clinically and genetically examined.

Results:

All affected members complained of night blindness from early childhood and their ERGs were extinguished in the first decade of life. Seven out of eight presented PPS on fundus examination and SD-OCT. The youngest patient did not present PPS at 11 months of age, but the signs of posterior pole bowing became evident at age 8 years. There was no association between the presence of PPS and refraction. Patients with PPS were either hyperopic or myopic, but all have a high with-the-rule astigmatism. A myopic shift was observed for all of them at follow-up. In this family, the disease segregated with the c.886A>G mutation in RHO gene.

Conclusion:

A PPS development was observed in initially non-myopic patients of a family with unusually severe dominant RP. The PPS concerned only the area with relatively preserved outer retinal layers (outer nuclear layer and ellipsoid zone). How the outer retina could guide choroid and scleral remodelling remains unclear.

Authors+Show Affiliations

Exploration of Vision and Neuro-Ophthalmology Department, Lille University Hospital , Lille , France. Faculté de Médecine, Université de Lille , Lille , France.Exploration of Vision and Neuro-Ophthalmology Department, Lille University Hospital , Lille , France.Exploration of Vision and Neuro-Ophthalmology Department, Lille University Hospital , Lille , France.Exploration of Vision and Neuro-Ophthalmology Department, Lille University Hospital , Lille , France.Biochemistry and Molecular Biology Department - UF Génopathies, Univ Lille , Lille , France.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31438752

Citation

Smirnov, Vasily M., et al. "Severe Retinitis Pigmentosa With Posterior Staphyloma in a Family With c.886C>A p.(Lys296Glu) RHO Mutation." Ophthalmic Genetics, vol. 40, no. 4, 2019, pp. 365-368.
Smirnov VM, Marks C, Drumare I, et al. Severe retinitis pigmentosa with posterior staphyloma in a family with c.886C>A p.(Lys296Glu) RHO mutation. Ophthalmic Genet. 2019;40(4):365-368.
Smirnov, V. M., Marks, C., Drumare, I., Defoort-Dhellemmes, S., & Dhaenens, C. M. (2019). Severe retinitis pigmentosa with posterior staphyloma in a family with c.886C>A p.(Lys296Glu) RHO mutation. Ophthalmic Genetics, 40(4), pp. 365-368. doi:10.1080/13816810.2019.1655771.
Smirnov VM, et al. Severe Retinitis Pigmentosa With Posterior Staphyloma in a Family With c.886C>A p.(Lys296Glu) RHO Mutation. Ophthalmic Genet. 2019;40(4):365-368. PubMed PMID: 31438752.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Severe retinitis pigmentosa with posterior staphyloma in a family with c.886C>A p.(Lys296Glu) RHO mutation. AU - Smirnov,Vasily M, AU - Marks,Caroline, AU - Drumare,Isabelle, AU - Defoort-Dhellemmes,Sabine, AU - Dhaenens,Claire-Marie, Y1 - 2019/08/22/ PY - 2019/8/24/pubmed PY - 2019/8/24/medline PY - 2019/8/24/entrez KW - gene KW - Retinitis pigmentosa KW - macular staphyloma SP - 365 EP - 368 JF - Ophthalmic genetics JO - Ophthalmic Genet. VL - 40 IS - 4 N2 - Background: Posterior pole staphylomata (PSS) is an outward bulging of ocular wall, rarely reported in association with inherited retinal degenerations. Patients and methods: We report a large French family of Jewish ancestry with a peculiar form of dominant retinitis pigmentosa (RP) and posterior pole staphyloma (PPS). Eight members were clinically and genetically examined. Results: All affected members complained of night blindness from early childhood and their ERGs were extinguished in the first decade of life. Seven out of eight presented PPS on fundus examination and SD-OCT. The youngest patient did not present PPS at 11 months of age, but the signs of posterior pole bowing became evident at age 8 years. There was no association between the presence of PPS and refraction. Patients with PPS were either hyperopic or myopic, but all have a high with-the-rule astigmatism. A myopic shift was observed for all of them at follow-up. In this family, the disease segregated with the c.886A>G mutation in RHO gene. Conclusion: A PPS development was observed in initially non-myopic patients of a family with unusually severe dominant RP. The PPS concerned only the area with relatively preserved outer retinal layers (outer nuclear layer and ellipsoid zone). How the outer retina could guide choroid and scleral remodelling remains unclear. SN - 1744-5094 UR - https://www.unboundmedicine.com/medline/citation/31438752/Severe_retinitis_pigmentosa_with_posterior_staphyloma_in_a_family_with_c.886C>A_p.(Lys296Glu)_RHO_mutation L2 - http://www.tandfonline.com/doi/full/10.1080/13816810.2019.1655771 DB - PRIME DP - Unbound Medicine ER -