Setting-sun eye phenomenon

MedGen UID:: 602082
•Concept ID:: C0423128
•: Sign or Symptom

Synonyms:	Eyes fixed downward; Sun setting eyes; Sunsetting eye; Sunsetting eyes
SNOMED CT:	Sunsetting eyes (63342001)

HPO:	HP:0012470

Definition

An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Setting-sun eye phenomenon

Phenotypic abnormality
- Abnormality of the eye
  - Abnormal eye physiology
    - Abnormality of eye movement
      - Ophthalmoparesis
        Setting-sun eye phenomenon

Conditions with this feature

Mitochondrial complex IV deficiency, nuclear type 22

MedGen UID:: 1786100
•Concept ID:: C5543491
•: Disease or Syndrome

Mitochondrial complex IV deficiency nuclear type 22 (MC4DN22) is an autosomal recessive metabolic disorder characterized by neonatal hypertrophic cardiomyopathy, encephalopathy, and severe lactic acidosis with fatal outcome (Wintjes et al., 2021). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.

See: Condition Record

Mitochondrial complex IV deficiency, nuclear type 22