Table 1 of Wicher, Mol Vis 2025; 31:267-274.

Table 1. Patients characteristics.

ID Sex AO
(months) RB phenotype First sign Other medical findings FH Cytogenetic findings
P1 M 10 bilateral eye clouding ASD, obesity neg. PGD
P2 F 19 unil., right strabismus multiple nevi, thyroid cyst pos. balanced translocation
P3 M 42 unil., left leukocoria ASD, obesity, dysmorphia neg. WGD
P4 F 12 unil., right strabismus   pos. duplication
P5 F 22 unil., left strabismus   neg. PGD
P6 F 9 bilateral strabismus   pos. WGD
P7 F 4 bilateral leukocoria   neg. PGD
P8 M 23 bilateral strabismus macrocephaly, dysmorphia, pineal glial cyst neg. WGD
P9 M ND unil., right ND   neg. duplication
P10 F 10 bilateral strabismus   neg. PGD
P11 M 20 unil., left strabismus rhabdoid kidney tumor, DD neg. PGD, translocation
P12 M 5 bilateral nystagmus   neg. PGD
P13 M 9 bilateral strabismus hisiocytosis neg. PGD
P14 F 0 bilateral screening   pos. PGD
P15 M 2 bilateral leukocoria   pos. WGD
P16 F 20 bilateral red eye cleft palate neg. WGD
P17 F 55 bilateral strabismus   neg. WGD
P18 M 8 bilateral eye asymm.   neg. PGD
P19 F 35 unil., left leukocoria heterochromia neg. PGD

AO – age of onset; ASD – autism spectrum disorder; asymm.- asymmetry; DD – developmental delay; F – female, FH – family history; ID – patient’s identification; M – male; neg. – negative; ND – no data; P – patient; PGD – partial gene deletion; pos. – positive; unil. – unilateral; RB – retinoblastoma; WGD – whole gene deletion

Wicher, Mol Vis 2025; 31:267-274. http://www.molvis.org/molvis/v31/267

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