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Chromosome 16q12 duplication syndrome

MedGen UID:: 1794292
•Concept ID:: C5562082
•: Disease or Syndrome

Synonym:	CONE DYSTROPHY WITH EARLY-ONSET TRITANOPIC COLOR VISION DEFECT

Monarch Initiative:	MONDO:0859210
OMIM®:	619649

Definition

Chromosome 16q12 duplication syndrome is characterized by early-onset progressive cone dystrophy, with early blue cone involvement. Patients report reduced visual acuity in the first decade of life, as well as difficulty differentiating colors, photophobia, and reduced night vision (Kohl et al., 2021). Tritanopia can also be caused by heterozygous mutation in the OPN1SW gene (613522) on chromosome 7q32 (see 190900). [from OMIM]

Clinical features

From HPO

Photophobia

MedGen UID:: 43220
•Concept ID:: C0085636
•: Sign or Symptom

Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.

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Anisocoria

MedGen UID:: 1944
•Concept ID:: C0003079
•: Finding

Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.

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Night blindness

MedGen UID:: 10349
•Concept ID:: C0028077
•: Disease or Syndrome

Inability to see well at night or in poor light.

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Cataract

MedGen UID:: 39462
•Concept ID:: C0086543
•: Disease or Syndrome

A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.

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Blue color blindness

MedGen UID:: 57827
•Concept ID:: C0155017
•: Disease or Syndrome

Tritanopia is an autosomal dominant disorder of human vision characterized by a selective deficiency of blue spectral sensitivity (Weitz et al., 1992).

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Reduced visual acuity

MedGen UID:: 65889
•Concept ID:: C0234632
•: Finding

Diminished clarity of vision.

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High myopia

MedGen UID:: 78759
•Concept ID:: C0271183
•: Disease or Syndrome

A severe form of myopia with greater than -6.00 diopters.

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Paracentral scotoma

MedGen UID:: 75740
•Concept ID:: C0271197
•: Finding

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Temporal optic disc pallor

MedGen UID:: 576209
•Concept ID:: C0344299
•: Disease or Syndrome

A pale yellow discoloration of the temporal (lateral) portion of the optic disc.

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Retinal pigment epithelial mottling

MedGen UID:: 347513
•Concept ID:: C1857644
•: Finding

Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium.

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Central thinning of the outer nuclear layer of the retina

MedGen UID:: 1052433
•Concept ID:: CN376963
•: Finding

Reduced thickness of the outer nuclear layer in the middle region of the retina. The outer nuclear layer (ONL) of the retina contains the nuclei of the cone and rod photoreceptors. Loss of the cellular machinery found in these nuclei causes irreparable loss of the photoreceptors and the capacity for visual function. This feature can be appreciated by directional optical coherence tomography.

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Abnormality of the eye
Abnormality of the nervous system
- Photophobia

Recent clinical studies

Diagnosis

Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia.

Zerem A, Vinkler C, Michelson M, Leshinsky-Silver E, Lerman-Sagie T, Lev D
Am J Med Genet A 2011 Dec;155A(12):2991-6. Epub 2011 Nov 3 doi: 10.1002/ajmg.a.34316. PMID: 22052843

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Chromosome 16q12 duplication syndrome

Definition

Clinical features

Recent clinical studies

Diagnosis

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