Table 4 of Salles, Mol Vis 2018; 24:546-559.

Table 4. Pathogenic variants in the ABCA4 gene and clinical data of patients with no fundus autofluorescence classification.

Pt S Pathogenic variants Visual acuity Age of onset/
data collect/
disease duration (years)
Allele 1 Allele 2
Nucleotide
change Protein
change Nucleotide
change Protein
change RE
LE
40§• M c.1622T>C p.Leu541Pro† c.1622T>C p.Leu541Pro† N/A
N/A N/A/35/N/A
c.4328G>A p.Arg1443His† c.4328G>A p.Arg1443His†
41• F c.5282C>G p.Pro1761Arg c.2345G>A p.Trp782* 20/200
20/200 N/A/27/N/A
c.6316C>T p.Arg2106Cys    
27Ω F c.868C>T p.Arg290Trp c.5882G>A p.Gly1961Glu 20/400
20/400 40/61/21
c.2690C>T p.Thr897Ile    
38• M c.32T>C p. Leu11Pro c.3113C>T p. Ala1038Val 20/400
20/400 20/21/1

Pt, Patient; S, Sex; N/A, not available • Segregation analysis performed †Homozygous variants. § Consanguinity Families: Siblings: 41 and 49 (Table 1). ΩPatient 27 present 3 patogenic variants, but without segregation analisys it was impossible to determinate which of them are combined in cis.

Salles, Mol Vis 2018; 24:546-559. http://www.molvis.org/molvis/v24/546

©2018 Molecular Vision http://www.molvis.org/molvis/

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