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Mild retinitis pigmentosa, including sector retinitis pigmentosa associated with 2 pathogenic variants in CDH23.

• Authors : Dhoble, Pankaja¹ (AUTHOR); de Guimarães, Thales A. C.^1,2 (AUTHOR); Webster, Andrew R.^1,2 (AUTHOR)

Subjects: *RETINITIS pigmentosa; *SENSORINEURAL hearing loss; *USHER'S syndrome

• Source: Ophthalmic Genetics. Oct2024, Vol. 45 Issue 5, p516-521. 6p.

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Usher syndrome in the United Arab Emirates.

• Authors : Khan, Arif O.^1,2 (AUTHOR)

Subjects: *USHER'S syndrome; *RETINITIS pigmentosa; *HEARING disordersUNITED Arab Emirates

• Source: Ophthalmic Genetics. Dec2024, Vol. 45 Issue 6, p566-570. 5p.

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Syndromic Retinitis Pigmentosa: A 15-Patient Study.

• Authors : Holanda, Ianne Pessoa; Rim, Priscila Hae Hyun; Guaragna, Mara Sanches

Subjects: RETINITIS pigmentosa; AGE of onset; USHER'S syndromeBRAZIL

• Source: Genes; Apr2024, Vol. 15 Issue 4, p516, 13p

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Retinitis pigmentosa in Usher syndrome in India: Electronic medical records driven big data analytics: Report III.

• Authors : Parameswarappa, Deepika¹ (AUTHOR); Das, Anthony² (AUTHOR); Doctor, Mariya³ (AUTHOR)

Subjects: *CROSS-sectional method; *RETINITIS pigmentosa; *USHER'S syndromeINDIA

• Source: Indian Journal of Ophthalmology. Jul2022, Vol. 70 Issue 7, p2540-2545. 6p.

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A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes.

• Authors : Lähteenoja, Laura^1,2,3 (AUTHOR); Häkli, Sanna^1,4 (AUTHOR); Tuupanen, Sari⁵ (AUTHOR)

Subjects: *RETINITIS pigmentosa; *USHER'S syndrome; *HEARING disorders

• Source: Ophthalmic Genetics. Apr2022, Vol. 43 Issue 2, p152-158. 7p.

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Photodynamic therapy for vasoproliferative tumour associated with retinitis pigmentosa and Usher syndrome type 2.

• Authors : Grassi, Piergiacomo¹ (AUTHOR)

Subjects: *RETINITIS pigmentosa; *PHOTODYNAMIC therapy; *USHER'S syndrome

• Source: Clinical & Experimental Optometry. Jan2022, Vol. 105 Issue 1, p91-93. 3p.

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Novel RDH5 Mutation in Family with Mother Having Fundus Albipunctatus and Three Children with Retinitis Pigmentosa.

• Authors : Wang, Chunxia^1,2 (AUTHOR); Nakanishi, Nobuo² (AUTHOR); Ohishi, Kentaro² (AUTHOR)

Subjects: *RETINITIS pigmentosa; *GENETIC disorders in children; *GENETIC mutation

• Source: Ophthalmic Genetics. Mar2008, Vol. 29 Issue 1, p29-32. 4p. 1 Black and White Photograph, 2 Diagrams, 1 Chart.

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QR‐421a RNA therapy in retinitis pigmentosa due to mutations in USH2A: Stellar trial Phase[AP1] 1b/2 interim results.

• Authors : Audo, Isabelle^1,2,3 (AUTHOR); Birch, David G.⁴ (AUTHOR); Thiran Jayasundera, K.⁵ (AUTHOR)

Subjects: *RETINITIS pigmentosa; *VISUAL acuity; *USHER'S syndrome

• Source: Acta Ophthalmologica (1755375X). Jan2022 Supplement 1, Vol. 100, pN.PAG-N.PAG. 1p.

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RETINITIS PIGMENTOSA.

Subjects: *RETINITIS pigmentosa; *PIGMENTATION disorders; *RETINAL degeneration

• Source: Review of Optometry. 3/15/2005 Supplement, Vol. 142, p37A-40A. 3p.

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PHARC syndrome: an overview.

• Authors : Harutyunyan, Lusine; Callaerts, Patrick; Vermeer, Sascha

Subjects: HEARING disorders; CEREBELLAR ataxia; DIAGNOSIS

• Source: Orphanet Journal of Rare Diseases; 11/5/2024, Vol. 19 Issue 1, p1-19, 19p

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