Noble Bass Sherman Syndrome

Classification according to ICD-10
Q15.8	Other specified congenital malformations of the eye
ICD-10 online (WHO version 2019)

The Noble bass Sherman syndrome is a very rare congenital disease with a combination of congenital lens dislocation and cataract , retinal dystrophy and myopia .

The name refers to the authors of the first description from 1993 by the US ophthalmologists KG Noble, S. Bass and J. Sherman.

Spread and cause

The frequency is given as less than 1 in 1,000,000, so far four people have been reported to be affected. Inheritance is autosomal - recessive . The cause is not yet known.

Clinical manifestations

Clinical criteria are:

Manifestation in newborn to childhood
Lens dislocation
congenital cataract
Retinal dystrophy with tapetoretinal degeneration and complete retinal detachment
myopia

diagnosis

The diagnosis arises from the combination of clinical findings.

Individual evidence

↑ ^a ^b ^c Ectopia lentis - chorioretinal dystrophy - myopia. In: Orphanet (Rare Disease Database).
^ KG Noble, S. Bass, J. Sherman: Ectopia lentis, chorioretinal dystrophy and myopia. A new autosomal recessive syndrome. In: Documenta ophthalmologica. Advances in ophthalmology. Volume 83, Number 2, 1993, pp. 97-102, PMID 8334934 .

Web links

Rare Diseases

[Orpha-1] Ectopia lentis - chorioretinal dystrophy - myopia. In: Orphanet (Rare Disease Database).

[2] KG Noble, S. Bass, J. Sherman: Ectopia lentis, chorioretinal dystrophy and myopia. A new autosomal recessive syndrome. In: Documenta ophthalmologica. Advances in ophthalmology. Volume 83, Number 2, 1993, pp. 97-102, PMID 8334934 .