Uncommon fundus presentation of Koolen-De Vries Syndrome in a young boy
CONCLUSION: This case highlights the importance of considering ophthalmic manifestations in individuals diagnosed with Koleen-De Vries syndrome. Further research is needed to better understand the pathogenesis and clinical implications of these ocular findings.PMID:37528764 | DOI:10.1080/13816810.2023.2237573 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 2, 2023 Category: Opthalmology Authors: Hamad Alomairah Abdullah Ali Rabeah Altemaimi Talal Alabduljalil Source Type: research
The genetic counselor workforce in inherited retinal disease clinics: a descriptive assessment
CONCLUSIONS: This descriptive assessment of a small subspecialty suggests a need for growth in the number of GCs practicing in IRD clinics and could help to inform development of new GC positions in IRD centers. It also highlights the desire for additional GC-specific education and may be relevant to curriculum development within GC programs.PMID:37530443 | DOI:10.1080/13816810.2023.2239910 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 2, 2023 Category: Opthalmology Authors: Michelle Alabek Katherine Andersen Lesley Everett Molly Marra Source Type: research
Uncommon fundus presentation of Koolen-De Vries Syndrome in a young boy
CONCLUSION: This case highlights the importance of considering ophthalmic manifestations in individuals diagnosed with Koleen-De Vries syndrome. Further research is needed to better understand the pathogenesis and clinical implications of these ocular findings.PMID:37528764 | DOI:10.1080/13816810.2023.2237573 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 2, 2023 Category: Opthalmology Authors: Hamad Alomairah Abdullah Ali Rabeah Altemaimi Talal Alabduljalil Source Type: research
The genetic counselor workforce in inherited retinal disease clinics: a descriptive assessment
CONCLUSIONS: This descriptive assessment of a small subspecialty suggests a need for growth in the number of GCs practicing in IRD clinics and could help to inform development of new GC positions in IRD centers. It also highlights the desire for additional GC-specific education and may be relevant to curriculum development within GC programs.PMID:37530443 | DOI:10.1080/13816810.2023.2239910 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 2, 2023 Category: Opthalmology Authors: Michelle Alabek Katherine Andersen Lesley Everett Molly Marra Source Type: research
Uncommon fundus presentation of Koolen-De Vries Syndrome in a young boy
CONCLUSION: This case highlights the importance of considering ophthalmic manifestations in individuals diagnosed with Koleen-De Vries syndrome. Further research is needed to better understand the pathogenesis and clinical implications of these ocular findings.PMID:37528764 | DOI:10.1080/13816810.2023.2237573 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 2, 2023 Category: Opthalmology Authors: Hamad Alomairah Abdullah Ali Rabeah Altemaimi Talal Alabduljalil Source Type: research
Optic nerve abnormalities in female-restricted Wieacker-Wolff syndrome by a novel variant in the ZC4H2 gene
DISCUSSION: WRWFFR is an ultra-rare disease with X-linked inheritance by variants in the ZC4H2 gene. This case reports a girl with a novel nonsense variant in the ZC4H2 gene and a severe phenotype; previous reports have identified WRWFFR in females with large deletions and nonsense mutations which could explain the manifestations in the current case report. A complete ophthalmic examination should be considered in patients with WRWFFR to detect the possibly associated optic nerve involvement and other previously described manifestations such as ptosis and strabismus.PMID:37519288 | DOI:10.1080/13816810.2023.2237578 (Source...
Source: Ophthalmic Genetics - July 31, 2023 Category: Opthalmology Authors: Marisol Ibarra-Ram írez Marissa L Fernandez-de-Luna Luis D Campos-Acevedo Joel Arenas-Estala Laura E Mart ínez-de-Villarreal Claudia Rodr íguez-Garza Oscar DeLagarza-Pineda Jibran Mohamed-Noriega Source Type: research
Pathogenic variants of < em > MFRP < /em > and < em > PRSS56 < /em > genes are major causes of nanophthalmos in Japanese patients
CONCLUSIONS: NNOs in Japanese patients are caused by variants of the PRSS56 and MFRP genes as in other ethnic populations. In addition, two new variants of the MFRP gene were found in our cohort. The phenotypes and anomalies in Japanese patients with NNO were similar to those reported for other ethnic populations.PMID:37501562 | DOI:10.1080/13816810.2023.2208220 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 28, 2023 Category: Opthalmology Authors: Junya Ota Taiga Inooka Satoshi Okado Natsuki Maeda Yoshito Koyanagi Taro Kominami Koji M Nishiguchi Shinji Ueno Source Type: research
Cryptophthalmos: associated syndromes and genetic disorders
CONCLUSION: This is the first report of a possible association between cryptophthalmos and biallelic CELSR2 variants. Children with cryptophthalmos, especially those with extra-ocular involvement, should be referred for comprehensive genetic evaluation.PMID:37493047 | DOI:10.1080/13816810.2023.2237568 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 26, 2023 Category: Opthalmology Authors: Daphna Landau-Prat Diana H Kim Sana Bautista Alanna Strong Karen E Revere William R Katowitz James A Katowitz Source Type: research
Female carrier of < em > RPGR < /em > mutation presenting with high myopia
CONCLUSION: This is the second report associating this specific RPGR mutation with high myopia and the first report to identify it in a female proband. This case provides additional evidence on the genotypic-phenotypic correlation between RPGR c.212C>G mutation and high myopia.PMID:37489109 | DOI:10.1080/13816810.2023.2237571 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 25, 2023 Category: Opthalmology Authors: Aikaterini K Seliniotaki Athina Ververi Stavrenia Koukoula Georgios Efstathiou Spyridon Gerou Nikolaos Ziakas Asimina Mataftsi Source Type: research
Local progression kinetics of macular atrophy in recessive Stargardt disease
CONCLUSIONS: Incidence and progression of atrophy by fundus autofluorescence follow opposite patterns in STGD1. Further, atrophy progression increases significantly with distance from foveal center, which should be taken into consideration in clinical trials.PMID:37381907 | DOI:10.1080/13816810.2023.2228891 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 29, 2023 Category: Opthalmology Authors: Benjamin K Young Peter Y Zhao Liangbo L Shen Abigail T Fahim K Thiran Jayasundera Source Type: research
