Search Results

Non-vasogenic cystoid maculopathy in autosomal recessive bestrophinopathy: novel insights from NIR-FAF and OCTA imaging.

• Authors : Bianco L; Department of Ophthalmology, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Arrigo A

Subjects: Retinal Diseases*/Retinal Diseases*/Retinal Diseases*/diagnostic imaging ; Retinal Diseases*/Retinal Diseases*/Retinal Diseases*/genetics ; Macular Degeneration* Bestrophinopathy

• Source: Ophthalmic genetics [Ophthalmic Genet] 2024 Feb; Vol. 45 (1), pp. 44-50. Date of Electronic Publication: 2023 Apr 11.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

RPGRIP1 -related retinal disease presenting as isolated cone dysfunction.

• Authors : Khan AO; Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, UAE.; Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio, USA.

Subjects: Cone-Rod Dystrophies*/Cone-Rod Dystrophies*/Cone-Rod Dystrophies*/diagnosis ; Cone-Rod Dystrophies*/Cone-Rod Dystrophies*/Cone-Rod Dystrophies*/genetics ; Eye Diseases*

• Source: Ophthalmic genetics [Ophthalmic Genet] 2023 Dec; Vol. 44 (6), pp. 595-597. Date of Electronic Publication: 2023 Feb 10.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Autosomal recessive bestrophinopathy associated with compound heterozygous variants in the BEST1 gene.

• Authors : Hemptinne C; Ophthalmology Department, CHU Brugmann, Université Libre de Bruxelles, Brussels, Belgium.; Willermain F

Subjects: Eye Diseases, Hereditary*/Eye Diseases, Hereditary*/Eye Diseases, Hereditary*/diagnosis ; Eye Diseases, Hereditary*/Eye Diseases, Hereditary*/Eye Diseases, Hereditary*/genetics ; Retinal Diseases*/Retinal Diseases*/Retinal Diseases*/diagnosis Bestrophinopathy

• Source: Ophthalmic genetics [Ophthalmic Genet] 2023 Jun; Vol. 44 (3), pp. 318-320. Date of Electronic Publication: 2022 Sep 04.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Dual phenotype: co-occurring Leber congenital amaurosis and familial exudative vitreoretinopathy: a case report.

• Authors : Miraldi Utz V; Abrahamson Pediatric Eye Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Ophthalmology, University of Cincinnati, Cincinnati, Ohio, USA.

Subjects: Retinal Diseases*/Retinal Diseases*/Retinal Diseases*/complications ; Retinal Diseases*/Retinal Diseases*/Retinal Diseases*/diagnosis ; Retinal Diseases*/Retinal Diseases*/Retinal Diseases*/genetics

• Source: Ophthalmic genetics [Ophthalmic Genet] 2023 Feb; Vol. 44 (1), pp. 89-92. Date of Electronic Publication: 2022 Nov 25.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Unrecognized ROPER in a child with a novel pathogenic variant in ZNF408 gene.

• Authors : Tanenbaum R; Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami Miller School of Medicine, Miami, Florida, USA.; Acon D

Subjects: Retinal Diseases*/Retinal Diseases*/Retinal Diseases*/diagnosis ; Retinopathy of Prematurity*/Retinopathy of Prematurity*/Retinopathy of Prematurity*/diagnosis ; Retinopathy of Prematurity*/Retinopathy of Prematurity*/Retinopathy of Prematurity*/drug therapy

• Source: Ophthalmic genetics [Ophthalmic Genet] 2023 Apr; Vol. 44 (2), pp. 171-174. Date of Electronic Publication: 2020 Jun 12.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

RBP4-related eye disease in a Danish family with retinitis pigmentosa and congenital ocular malformations.

• Authors : Kessel, Line^1,2 (AUTHOR) ; Bertelsen, Mette³ (AUTHOR); Grønskov, Karen³ (AUTHOR)

• Source: Ophthalmic Genetics. Dec2022, Vol. 43 Issue 6, p876-881. 6p.

Record details

MFRP variant results in nanophthalmos, retinitis pigmentosa, variability in foveal avascular zone.

• Authors : Vanden Heuvel C; Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.; Aldred B

Subjects: Microphthalmos*/Microphthalmos*/Microphthalmos*/diagnosis ; Microphthalmos*/Microphthalmos*/Microphthalmos*/genetics ; Microphthalmos*/Microphthalmos*/Microphthalmos*/complications

• Source: Ophthalmic genetics [Ophthalmic Genet] 2023 Feb; Vol. 44 (1), pp. 83-88. Date of Electronic Publication: 2022 Jul 26.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Adult-onset bestrophinopathy mistaken as central serous chorioretinopathy.

• Authors : Khan AO; Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates.; Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio, USA.

Subjects: Central Serous Chorioretinopathy*/Central Serous Chorioretinopathy*/Central Serous Chorioretinopathy*/diagnosis ; Eye Diseases, Hereditary*/Eye Diseases, Hereditary*/Eye Diseases, Hereditary*/diagnosis ; Eye Diseases, Hereditary*/Eye Diseases, Hereditary*/Eye Diseases, Hereditary*/genetics Bestrophinopathy

• Source: Ophthalmic genetics [Ophthalmic Genet] 2022 Aug; Vol. 43 (4), pp. 476-480. Date of Electronic Publication: 2022 Mar 21.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Vitreous involvement as initial presentation of hereditary transthyretin amyloidosis related to the rare TTR Ile107Met (p.Ile127Met) pathogenic variant.

• Authors : Treviño-Herrera AB; Inflammatory Eye Disease Clinic, Asociación Para Evitar La Ceguera En México, México City, México.; Inflammatory Eye Disease Clinic, Asociación Para Evitar La Ceguera En México, Mexico.

Subjects: Amyloid Neuropathies, Familial*/Amyloid Neuropathies, Familial*/Amyloid Neuropathies, Familial*/complications ; Amyloid Neuropathies, Familial*/Amyloid Neuropathies, Familial*/Amyloid Neuropathies, Familial*/diagnosis ; Amyloid Neuropathies, Familial*/Amyloid Neuropathies, Familial*/Amyloid Neuropathies, Familial*/genetics Amyloidosis, Hereditary, Transthyretin-Related

• Source: Ophthalmic genetics [Ophthalmic Genet] 2022 Jun; Vol. 43 (3), pp. 413-419. Date of Electronic Publication: 2022 Jan 17.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Severe foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in COL2A1 gene.

• Authors : Asano M; Department of Ophthalmology, University of Occupational and Environmental Health, Japan, Kitakyushu, Japan.; Yokoyama K

Subjects: Collagen Type II*/Collagen Type II*/Collagen Type II*/genetics ; Eye Diseases, Hereditary*/Eye Diseases, Hereditary*/Eye Diseases, Hereditary*/genetics ; Macular Degeneration*/Macular Degeneration*/Macular Degeneration*/genetics Stickler syndrome, type 1

• Source: Ophthalmic genetics [Ophthalmic Genet] 2022 Aug; Vol. 43 (4), pp. 508-512. Date of Electronic Publication: 2022 Apr 26.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details