Various degrees of retinal atrophy are also present. [centogene.com]

The genetic cause for Leber congenital amaurosis in this patient is presently under investigation, AIPL1 being the strongest candidate. [medscape.com]

With age at presentation between 31 and 71 years the BCVA ranged from light perception to 20/25. All patients reported night blindness at presentation. [nature.com]

(p. 410) Cone Dysfunction Syndromes, Cone Dystrophies, and Cone-Rod Degenerations Predominant abnormalities of cone photoreceptor function are present in retinal disorders previously classified under a number of headings, such as cone dystrophies, cone-rod [oxfordmedicine.com]

The macula presents with yellow-white spots of irregular shapes. Evans K, Duvall-Young J, Fitzke FW, et al.: Chromosome 19q cone-rod retinal dystrophy: ocular phenotype. Arch Ophthal 113:195, 1995. [accessanesthesiology.mhmedical.com]

PCR fragments were purified by ExoSAP-IT treatment (USB, Cleveland, OH), sequenced using Big Dye Termination chemistry (Applied Biosystems [ABI], Weiterstadt, Germany) and products separated on a DNA capillary sequencer (ABI 3100 genetic analyzer; ABI [nature.com]

Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology. 2012 Apr;119(4):819-26. doi: 10.1016/j.ophtha.2011.10.011. Epub 2012 Jan 20. Citation on PubMed [medlineplus.gov]

Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology 119, 819–826 (2012). Article PubMed Google Scholar 2. Michaelides, M., Hardcastle, A. J., Hunt, D. M. & Moore, A. T. [nature.com]

The cloning of this disease gene should provide an insight into rod, as well as cone function and aid in our understanding of the pathophysiology of cone-rod dystrophy. [academic.oup.com]