Table 1 Ophthalmologic data of patients carrying pathogenic THRB variants in our IRD-cohort.
Family | Patient | THRB variant | Other P/LP IRD genes variants identified | Gender | Initial diagnosis | Disease onset | First symptoms | Other visual symptoms | Ophthalmologic examination | Age of last ophthalmologic examination | Endocrine disorder | Extraocular manifestations | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Fundus images and FAF | SD-OCT | Electrophisiology | ||||||||||||
Family 1 | III:1 | THRB (NM_001354712.2): c.283 + 1G > A | NGS not performed | Male | MD | NA | NA | Visual acuity loss Central visual field loss | Hyperpigmentation of macular RPE. | Disruption of subfoveal ellipsoid layers. | NA | 66 years old | Normal levels of TSH and THs. | – |
III:4 | NGS not performed | Female | IRD | NA | NA | NA | NA | NA | NA | – | No endocrine disorder observed. | – | ||
IV:2 | ABCA4 (NM_000350.2): c.4253 + 43G > A (het) | Male | MD | Early childhood | Visual acuity loss Dyschromatopsia | Nyctalopia | Central hypoautofluorescence with surrounding hyperautofluorescence. | Disruption of subfoveal ellipsoid layers. | FF-ERG: Cone dysfunction P-ERG: Macular dysfunction | 43 years old | Normal levels of TSH and THs. | Behavior disorder, epilepsy secondary to perinatal hypoxia | ||
IV:4 | NGS not performed | Female | MD | Adolescence | Visual acuity loss | – | Macular alterations | Disruption of subfoveal ellipsoid layers. | NA | 31 years old | No endocrine disorder observed. | – | ||
Family 2 | II:4 | THRB (NM_001354712.2): c.283 + 1G > A | None | Female | MD | 6 years old | Visual acuity loss Central visual field loss | Dyschromatopsia Visual field loss Photophobia | Central hyperautofluorescence. | Disruption of subfoveal ellipsoid layers. | FF-ERG: Cone dysfunction P-ERG: Macular dysfunction | 51 years old | Normal levels of TSH and THs. | – |
Family 3 | III:4 | THRB (NM_001354712.2): c.283G > A | NGS not performed | Male | MD | 65 years old | Visual acuity loss | – | Macula with a granular appearance. | Disruption of subfoveal ellipsoid layers. | NA | 72 years old | No endocrine disorder observed. | – |
III:7 | NGS not performed | Male | MD | 53 years old | Dyschromatopsia | Visual acuity loss (likely secondary to cataract formation) | Central hyperautofluorescence. | Disruption of subfoveal ellipsoid layers with optic gap. | FF-ERG: Normal limits. P-ERG: Macular dysfunction | 59 years old | No endocrine disorder observed. | – | ||
IV:1 | None | Male | MD | 35 years old | Visual acuity loss | Dyschromatopsia, Central visual field loss Photophobia | Central hyperautofluorescence. | Disruption of subfoveal ellipsoid layers. | FF-ERG: No evidence of generalized photoreceptor dysfunction P-ERG: Macular dysfunction | 47 years old | Normal levels of TSH and THs. | – | ||
IV:7 | CABP4 (NM_145200.5): c.66dupT; p.Ala23Cysfs*9 (het) | Female | MD | 28 years old | Visual acuity los Dyschromatopsia Photophobia Nyctalopia | – | NA | Disruption of subfoveal ellipsoid layers. | NA | 38 years old | Normal levels of TSH and THs. | – | ||
IV:9 | None | Female | MD | NA | NA | NA | Macula with a granular appearance. | Disruption of subfoveal ellipsoid layers. | NA | 39 years old | Normal levels of TSH and THs. | - | ||
IV:12 | NGS not performed | Female | MD | 26 years old | Visual acuity loss | Photophobia Dyschromatopsia Central visual field loss Nyctalopia | Mild loss of the normal central macular hypoautofluorescence | Disruption of subfoveal ellipsoid layers with optic gap. | NA | 30 years old | Normal levels of TSH and THs. | – | ||
V:3 | NGS not performed | Female | MD | 7 years old | Visual acuity loss Photophobia Photopsias | – | Central hyperautofluorescence. | Disruption of subfoveal ellipsoid layers. | FF-ERG: no evidence of generalized photoreceptor dysfunction P-ERG: NA | 9 years old | Normal levels of TSH and THs. | – | ||
