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.