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Abnormal macular morphology

MedGen UID:
1624166
Concept ID:
C4520679
Anatomical Abnormality
Synonym: Macular abnormalities
 
HPO: HP:0001103

Definition

A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal macular morphology

Conditions with this feature

Niemann-Pick disease, type B
MedGen UID:
78651
Concept ID:
C0268243
Disease or Syndrome
The phenotype of acid sphingomyelinase deficiency (ASMD) occurs along a continuum. Individuals with the severe early-onset form, infantile neurovisceral ASMD, were historically diagnosed with Niemann-Pick disease type A (NPD-A). The later-onset, chronic visceral form of ASMD is also referred to as Niemann-Pick disease type B (NPD-B). A phenotype with intermediate severity is also known as chronic neurovisceral ASMD (NPD-A/B). The most common presenting symptom in NPD-A is hepatosplenomegaly, usually detectable by age three months; over time the liver and spleen become massive in size. Psychomotor development progresses no further than the 12-month level, after which neurologic deterioration is relentless. Failure to thrive typically becomes evident by the second year of life. A classic cherry-red spot of the macula of the retina, which may not be present in the first few months, is eventually present in all affected children. Interstitial lung disease caused by storage of sphingomyelin in pulmonary macrophages results in frequent respiratory infections and often respiratory failure. Most children succumb before the third year of life. NPD-B generally presents later than NPD-A, and the manifestations are less severe. NPD-B is characterized by progressive hepatosplenomegaly, gradual deterioration in liver and pulmonary function, osteopenia, and atherogenic lipid profile. No central nervous system (CNS) manifestations occur. Individuals with NPD-A/B have symptoms that are intermediate between NPD-A and NPD-B. The presentation in individuals with NPD-A/B varies greatly, although all are characterized by the presence of some CNS manifestations. Survival to adulthood can occur in individuals with NPD-B and NPD-A/B.
Congenital disorder of glycosylation type 1E
MedGen UID:
324784
Concept ID:
C1837396
Disease or Syndrome
Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin. For a general discussion of CDGs, see CDG Ia (212065) and CDG Ib (602579).
Multiple congenital anomalies-hypotonia-seizures syndrome 2
MedGen UID:
477139
Concept ID:
C3275508
Disease or Syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome-2 (MCAHS2) is an X-linked recessive neurodevelopmental disorder characterized by dysmorphic features, neonatal hypotonia, early-onset myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Some affected individuals die in infancy (summary by Johnston et al., 2012). The phenotype shows clinical variability with regard to severity and extraneurologic features. However, most patients present in infancy with early-onset epileptic encephalopathy associated with developmental arrest and subsequent severe neurologic disability; these features are consistent with a form of developmental and epileptic encephalopathy (DEE) (summary by Belet et al., 2014, Kato et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080). For a discussion of nomenclature and genetic heterogeneity of DEE, see 308350. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).

Professional guidelines

PubMed

Wan R, Chang A
Clin Exp Optom 2020 Jul;103(4):425-429. Epub 2019 Aug 22 doi: 10.1111/cxo.12957. PMID: 31441129
Ho CPS, Lai TYY
Indian J Ophthalmol 2018 Dec;66(12):1727-1735. doi: 10.4103/ijo.IJO_975_18. PMID: 30451173Free PMC Article
Anantharaman G, Sheth J, Bhende M, Narayanan R, Natarajan S, Rajendran A, Manayath G, Sen P, Biswas R, Banker A, Gupta C
Indian J Ophthalmol 2018 Jul;66(7):896-908. doi: 10.4103/ijo.IJO_1136_17. PMID: 29941728Free PMC Article

Recent clinical studies

Etiology

Cheng H, Cao D, Qian J, Gu W, Zheng Z, Ma M
Eur J Pediatr 2023 Jul;182(7):3121-3128. Epub 2023 Apr 25 doi: 10.1007/s00431-023-04965-7. PMID: 37097446
Staps P, Cruysberg JRM, Roeleveld N, Willemsen MAAP, Theelen T
Ophthalmol Retina 2019 Jun;3(6):500-509. Epub 2019 Feb 7 doi: 10.1016/j.oret.2019.01.023. PMID: 31174672

Diagnosis

Staps P, Cruysberg JRM, Roeleveld N, Willemsen MAAP, Theelen T
Ophthalmol Retina 2019 Jun;3(6):500-509. Epub 2019 Feb 7 doi: 10.1016/j.oret.2019.01.023. PMID: 31174672

Therapy

Cheng H, Cao D, Qian J, Gu W, Zheng Z, Ma M
Eur J Pediatr 2023 Jul;182(7):3121-3128. Epub 2023 Apr 25 doi: 10.1007/s00431-023-04965-7. PMID: 37097446

Prognosis

Staps P, Cruysberg JRM, Roeleveld N, Willemsen MAAP, Theelen T
Ophthalmol Retina 2019 Jun;3(6):500-509. Epub 2019 Feb 7 doi: 10.1016/j.oret.2019.01.023. PMID: 31174672

Clinical prediction guides

Cheng H, Cao D, Qian J, Gu W, Zheng Z, Ma M
Eur J Pediatr 2023 Jul;182(7):3121-3128. Epub 2023 Apr 25 doi: 10.1007/s00431-023-04965-7. PMID: 37097446
Staps P, Cruysberg JRM, Roeleveld N, Willemsen MAAP, Theelen T
Ophthalmol Retina 2019 Jun;3(6):500-509. Epub 2019 Feb 7 doi: 10.1016/j.oret.2019.01.023. PMID: 31174672

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