Ecvo Manual: Breeds 2021

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ECVO MANUAL: BREEDS 2021 Lagotto Romagnolo Ocular disorders known or presumed to be inherited (published) Diagnosis Description and Inheritance Gene/ References comments specific to marker test the breed Multiple Microphthalmia, Unknown NO 1 A ocular defect corneal edema, syndrome cataract, PPM iris-lens Keratoconju Unknown NO 2 B nctivitis sicca Corneal Unknown NO 2 C endothelial dystrophy Cataract Bilateral or unilateral; Unknown NO 1, 2 D cortical or nuclear Lens Unknown NO 2 E luxation Retinal Multifocal and Unknown NO 2 F dysplasia geographic (uncommon) Progressive Late onset, 6.5 years Autosomal prcd 1, 2 Retinal old recessive E Atrophy (PRA) Known and Presumed Hereditary Eye Diseases (KP-HED) in Dogs and Cats ECVO MANUAL: BREEDS 2021 The ECVO’s advice relating to hereditary eye disease control Please see ECVO Manual chapter 8: VET Advice Recommendations regarding age and frequency for eye examinations Please see ECVO Manual chapter 7: ECVO Age and Frequency recommendations Other ocular disorders (reported) Diagnosis Source Crasta M, personal communication; A Distichiasis/ectopic cilia ACVO genetics committee B Entropion Crasta M, personal communication ACVO genetics committee; Crasta M, C Persistent Pupillary Membranes personal communication D Corneal dystrophy, stromal Crasta M, personal communication E Primary glaucoma Crasta M, personal communication F PHPV/PHTVL Crasta M, personal communication References 1. Guandalini A. Inherited eye diseases in the Italian Breeds. ECVO Satellite Meeting, Trieste (Italy), 27/05/2012 2. Crasta M, Arteaga K, Barachetti L, Guandalini A. A retrospective evaluation of hereditary ocular disorders in Lagotto Romagnolo dog breed in Italy. Abstract #54, ECVO Annual Scientific Meeting 2021. Known and Presumed Hereditary Eye Diseases (KP-HED) in Dogs and Cats .

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National Study of Microphthalmia, Anophthalmia, and Coloboma (MAC
16 ORIGINAL ARTICLE J Med Genet: first published as 10.1136/jmg.39.1.16 on 1 January 2002. Downloaded from National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology D Morrison, D FitzPatrick, I Hanson, K Williamson, V van Heyningen, B Fleck, I Jones, J Chalmers, H Campbell ............................................................................................................................. J Med Genet 2002;39:16–22 We report an epidemiological and genetic study attempting complete ascertainment of subjects with microphthalmia, anophthalmia, and coloboma (MAC) born in Scotland during a 16 year period beginning on 1 January 1981. A total of 198 cases were confirmed giving a minimum live birth preva- lence of 19 per 100 000. One hundred and twenty-two MAC cases (61.6%) from 115 different fami- See end of article for lies were clinically examined and detailed pregnancy, medical, and family histories obtained. A authors’ affiliations simple, rational, and apparently robust classification of the eye phenotype was developed based on ....................... the presence or absence of a defect in closure of the optic (choroidal) fissure. A total of 85/122 Correspondence to: (69.7%) of cases had optic fissure closure defects (OFCD), 12/122 (9.8%) had non-OFCD, and Dr D FitzPatrick, MRC 25/122 (20.5%) had defects that were unclassifiable owing to the severity of the corneal or anterior Human Genetics Unit, chamber abnormality. Segregation analysis assuming single and multiple incomplete ascertainment, Western General Hospital, respectively, returned a sib recurrence risk of 6% and 10% in the whole group and 8.1% and 13.3% Edinburgh EH4 2XU, UK; in the OFCD subgroup.
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A Case of Hallermann-Streiff Syndrome with Aphakia
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Novel Mutations in ALDH1A3 Associated with Autosomal Recessive Anophthalmia/ Microphthalmia, and Review of the Literature Siying Lin1, Gaurav V
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Molecular Genetics of Corneal Dystrophy
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