Unraveling Hermansky-Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of < em > DTNBP1 < /em > variants
CONCLUSION: This work highlights the genetic complexity of HPS-7 and emphasizes the importance of genetic testing in the diagnosis of this rare disorder. The identification of a rare pathogenic variant expands our understanding of HPS-7 genetics and suggests a possible founder effect in the Portuguese population.PMID:38097925 | DOI:10.1080/13816810.2023.2291670 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 15, 2023 Category: Opthalmology Authors: Rita Rodrigues Rita Quental Renato Santos Silva L ídia Costa S érgio Estrela-Silva Source Type: research
Schimmelpenning-Feuerstein-Mims syndrome with orbital choristoma and < em > KRAS < /em > mutation: a current review and novel case report
DISCUSSION: SFMS, a rare neurocutaneous disorder, results from postzygotic mosaic mutations in the RAS/MAPK pathway. Patients present with various systemic findings and ophthalmic manifestations occur in most cases. This is the first case description of a KRAS mutation identified in an orbital choristoma in SFMS. The disease is described under various names in the literature, and we propose that all syndromic cases with mosaic RAS mutations be reported under the eponym, SFMS.PMID:38097938 | DOI:10.1080/13816810.2023.2291664 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 15, 2023 Category: Opthalmology Authors: Lauren B Yeager Daniel S Casper Armando Del Portillo Brian P Marr Source Type: research
Unraveling Hermansky-Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of < em > DTNBP1 < /em > variants
CONCLUSION: This work highlights the genetic complexity of HPS-7 and emphasizes the importance of genetic testing in the diagnosis of this rare disorder. The identification of a rare pathogenic variant expands our understanding of HPS-7 genetics and suggests a possible founder effect in the Portuguese population.PMID:38097925 | DOI:10.1080/13816810.2023.2291670 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 15, 2023 Category: Opthalmology Authors: Rita Rodrigues Rita Quental Renato Santos Silva L ídia Costa S érgio Estrela-Silva Source Type: research
Schimmelpenning-Feuerstein-Mims syndrome with orbital choristoma and < em > KRAS < /em > mutation: a current review and novel case report
DISCUSSION: SFMS, a rare neurocutaneous disorder, results from postzygotic mosaic mutations in the RAS/MAPK pathway. Patients present with various systemic findings and ophthalmic manifestations occur in most cases. This is the first case description of a KRAS mutation identified in an orbital choristoma in SFMS. The disease is described under various names in the literature, and we propose that all syndromic cases with mosaic RAS mutations be reported under the eponym, SFMS.PMID:38097938 | DOI:10.1080/13816810.2023.2291664 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 15, 2023 Category: Opthalmology Authors: Lauren B Yeager Daniel S Casper Armando Del Portillo Brian P Marr Source Type: research
Case report: ocular manifestations of a gain-of-function mutation in < em > CLCN6 < /em > , a newly diagnosed disease
CONCLUSION: While Clcn6-/- mice have been found to have a mild neuronal lysosomal storage phenotype, the three reported children with a de novo c.1658A>G (p.Tyr553Cys) variant displayed significant developmental delay and neurodegeneration.PMID:38095064 | DOI:10.1080/13816810.2023.2291683 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 14, 2023 Category: Opthalmology Authors: Lawrencia Kimera Sameera Nadimpalli Sudhi Kurup F Sessions Cole Russell Huang Kathleen Sisco Hantamalala Ranay Ranaivo Marwan Shinawi Patricia Dickson Ali Mian Margaret Reynolds None Undiagnosed Diseases Network Source Type: research
Foveal hypoplasia in a Chinese adolescent with 48, XXYY syndrome
CONCLUSION: We described novel OCT and OCTA features of bilateral foveal hypoplasia and reduction of FAZ in a case of 48, XXYY syndrome based on detailed clinical observation and thorough genetic testing. This case expanded the current literature of this rare sex chromosome abnormality and suggest the importance of retinal examinations in 48, XXYY syndrome.PMID:38087495 | DOI:10.1080/13816810.2023.2291669 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 13, 2023 Category: Opthalmology Authors: Chunli Chen Sitong Guo Zhiqin Huang Tao Fu Libin Jiang Fred Kuanfu Chen Source Type: research
Male infertility may be associated with < em > IFT140 < /em > -related autosomal recessive retinitis pigmentosa
CONCLUSIONS: A potential association between IFT140-related RP and male factor infertility may exist.PMID:38084016 | DOI:10.1080/13816810.2023.2291672 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 12, 2023 Category: Opthalmology Authors: Leslie Huang Elizabeth Kellom Kimberly Stepien Source Type: research
Mutations in < em > AGBL5 < /em > associated with Retinitis pigmentosa
CONCLUSION: These two cases provide further evidence regarding the relationship of pathogenic variants in AGBL5 as a cause of autosomal recessive RP.PMID:38078364 | DOI:10.1080/13816810.2023.2291687 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 11, 2023 Category: Opthalmology Authors: Diego I Paredes Nicholas R Bello Jenina E Capasso Rebecca Procopio Alex V Levin Source Type: research
Association of < em > GNB3 < /em > , < em > ACE < /em > polymorphisms with POAG and NTG
CONCLUSION: This study provides evidence of an association between the T allele of rs5443 and a reduced susceptibility NTG within the Russian population. These observations augment the comprehension of the genetic underpinnings of glaucoma and hold potential implications for the prospective development of targeted therapeutic interventions.PMID:37997634 | DOI:10.1080/13816810.2023.2283415 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 24, 2023 Category: Opthalmology Authors: Alexander N Samoylov Polina Tumanova Sofya A Pankratova Liana Sh Ashryatova Denis Plotnikov Source Type: research
Band-shaped keratopathy in < em > HNF4A < /em > -related Fanconi syndrome: a case report and review of the literature
CONCLUSIONS: Our case highlights the occurrence of BSK in an exceptionally rare manifestation of hereditary FS linked to HNF4A gene variant. The variant exists both in proband and asymptomatic mother. Therefore, the variable penetrance which is known to exist in HNF4A is acknowledged in this context. This report suggests the first documented instance establishing a plausible connection between BSK and HNF4A-associated FS, characterized by the variable penetrance attributed to the HNF4A gene.PMID:37997707 | DOI:10.1080/13816810.2023.2285310 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 24, 2023 Category: Opthalmology Authors: Anshuman Verma Dilip Kumar Mishra Deepak P Edward Muralidhar Ramappa Source Type: research
Association of < em > GNB3 < /em > , < em > ACE < /em > polymorphisms with POAG and NTG
CONCLUSION: This study provides evidence of an association between the T allele of rs5443 and a reduced susceptibility NTG within the Russian population. These observations augment the comprehension of the genetic underpinnings of glaucoma and hold potential implications for the prospective development of targeted therapeutic interventions.PMID:37997634 | DOI:10.1080/13816810.2023.2283415 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 24, 2023 Category: Opthalmology Authors: Alexander N Samoylov Polina Tumanova Sofya A Pankratova Liana Sh Ashryatova Denis Plotnikov Source Type: research
Band-shaped keratopathy in < em > HNF4A < /em > -related Fanconi syndrome: a case report and review of the literature
CONCLUSIONS: Our case highlights the occurrence of BSK in an exceptionally rare manifestation of hereditary FS linked to HNF4A gene variant. The variant exists both in proband and asymptomatic mother. Therefore, the variable penetrance which is known to exist in HNF4A is acknowledged in this context. This report suggests the first documented instance establishing a plausible connection between BSK and HNF4A-associated FS, characterized by the variable penetrance attributed to the HNF4A gene.PMID:37997707 | DOI:10.1080/13816810.2023.2285310 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 24, 2023 Category: Opthalmology Authors: Anshuman Verma Dilip Kumar Mishra Deepak P Edward Muralidhar Ramappa Source Type: research
