Table 1

Retinal findings of families with KLHL7 mutation

LiteratureSystemic associationsPatient cohortRetinal findingsGenetic mutation
Friedman et al 1 Not reported24 patients from a six-generation Scandinavian familyChanges of retinitis pigmentosa: retinal degeneration and bone spiculesHeterogeneous c.449G/A (p.S150N), in exon 6 of the KLHL7 gene
Hugosson et al 2 Not reported11 patients from a single family from the Swedish retinitis pigmentosa register

  • In early stages—normal fundi

  • In late stages—scattered bone corpuscular pigment, waxy pale disc, thinning of the retina and attenuated retinal blood vessels

  • First study with full-field ERG: varying degree of photoreceptor degeneration during long-term follow-up, with some family members manifesting late onset and preserved rod function until late in life

Heterozygous exon 6 change (c.458C>T)
Wen et al 3 Nil5 unrelated families referred to the Retina Foundation of the Southwest

  • Fundi showed classic signs of RP, including bone spicule pigmentation, arteriolar attenuation and waxy optic pallor

  • Best corrected visual acuity was 20/50 or better in at least one eye up to age 65 years

  • Static and kinetic visual fields showed concentric constriction to central 10°–20° by age 65 years

  • Decline rate of 3% per year in cone 31 Hz flicker response

Heterozygous c.458C>T (p.Ala153Val), c.449G>A (p.Ser150Asn) and c.457G>A (p.Ala153Thr)
Angius et al 7 Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1)2 children who has been diagnosed with CS/CISS1 syndrome, 4 and 6 years of ageFundi: abnormal appearance of the macula, attenuated arteriolar vessels, retinal pigmentary changesHomozygous c.1258C>T/p.Arg420Cys and c.1022delT/p.Leu341
Heng et al (current paper)BOS-Crisponi syndrome2 siblings from non-consanguineous parents from the UKFundi: soft confluent pale yellow lesions in mid-periphery, attenuated vessels, waxy optic disc, bull’s-eye maculopathyHomozygous c.1051C>T (p.Arg351*)

  • BOS, Bohring-Opitz syndrome; ERG, electroretinography; RP, retinitis pigmentosa.