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Optic disc hypoplasia

MedGen UID:
224879
Concept ID:
C1298695
Congenital Abnormality; Finding
Synonyms: Hypoplasia of the optic disc; Hypoplastic optic disc; Hypoplastic optic discs
SNOMED CT: Hypoplasia of optic disc (373650004); Optic disc hypoplasia (373650004)
 
HPO: HP:0007766

Definition

Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve. [from HPO]

Term Hierarchy

Conditions with this feature

Septo-optic dysplasia sequence
MedGen UID:
90926
Concept ID:
C0338503
Disease or Syndrome
Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010). Also see 516020.0012 for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.
Duane-radial ray syndrome
MedGen UID:
301647
Concept ID:
C1623209
Disease or Syndrome
SALL4-related disorders include Duane-radial ray syndrome (DRRS, Okihiro syndrome), acro-renal-ocular syndrome (AROS), and SALL4-related Holt-Oram syndrome (HOS) – three phenotypes previously thought to be distinct entities. DRRS is characterized by uni- or bilateral Duane anomaly and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs, hypoplasia or aplasia of the radii, shortening and radial deviation of the forearms, triphalangeal thumbs, and duplication of the thumb (preaxial polydactyly). AROS is characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesicoureteral reflux, bladder diverticula), ocular coloboma, and Duane anomaly. Rarely, pathogenic variants in SALL4 may cause clinically typical HOS (i.e., radial ray malformations and cardiac malformations without additional features).
CEDNIK syndrome
MedGen UID:
332113
Concept ID:
C1836033
Disease or Syndrome
Cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK) refers to a unique constellation of clinical manifestations including global developmental delay with hypotonia, roving eye movements or nystagmus, poor motor skills, and impaired intellectual development with speech delay. More variable features include microcephaly, feeding difficulties, seizures, ocular anomalies, hearing loss, and nonspecific dysmorphic facial features. Palmoplantar keratoderma and ichthyosis or neuropathy develop in some patients. Brain magnetic resonance imaging (MRI) shows varying degrees of cerebral dysgenesis, including absence of the corpus callosum and cortical dysplasia, as well as hypomyelination, white matter loss, and white matter signal anomalies suggestive of a leukodystrophy. Some patients may show developmental regression; many die in childhood (Fuchs-Telem et al., 2011; Mah-Som et al., 2021). With more patients being reported, several authors (Diggle et al., 2017; Llaci et al., 2019; Mah-Som et al., 2021) have observed that the dermatologic features and peripheral neuropathy show reduced penetrance and are more variable manifestations of this disorder, as they are not observed in all patients with biallelic SNAP29 mutations.
Fanconi anemia complementation group B
MedGen UID:
336901
Concept ID:
C1845292
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
Microphthalmia, isolated, with coloboma 6
MedGen UID:
462318
Concept ID:
C3150968
Disease or Syndrome
Combined oxidative phosphorylation deficiency 35
MedGen UID:
1639653
Concept ID:
C4693466
Disease or Syndrome
Combined oxidative phosphorylation deficiency-35 (COXPD35) is an autosomal recessive disorder characterized mainly by global developmental delay with intellectual disability, microcephaly, and early-onset myoclonic and other types of seizures. Affected individuals have variable deficiencies of mitochondrial respiratory enzyme complexes resulting from a defect in mitochondrial metabolism (summary by Kernohan et al., 2017). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
MedGen UID:
1786150
Concept ID:
C5543332
Disease or Syndrome
Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia (NEDFACH) is an autosomal recessive disorder characterized by global developmental delay and intellectual disability. The phenotype is variable: more severely affected individuals have poor overall growth with microcephaly, delayed walking, spasticity, and poor or absent speech, whereas others may achieve more significant developmental milestones and even attend special schooling. Brain imaging shows abnormalities of the cerebellum, most commonly cerebellar hypoplasia, although other features, such as thin corpus callosum and delayed myelination, may also be present. Dysmorphic facial features include sloping forehead, upslanting palpebral fissures, and hypertelorism. Additional more variable manifestations may include cardiac ventricular septal defect, spasticity, cataracts, optic nerve hypoplasia, seizures, and joint contractures (summary by Van Bergen et al., 2020).
Dworschak-Punetha neurodevelopmental syndrome
MedGen UID:
1800957
Concept ID:
C5677017
Disease or Syndrome
Dworschak-Punetha neurodevelopmental syndrome (DWOPNED) is an autosomal recessive disorder characterized mainly by global developmental delay and mildly impaired intellectual development (IQ range 77 to 85), often with behavioral abnormalities, including autism spectrum disorder and hyperactivity. Some affected individuals may have only speech delay or behavioral manifestations. More variable additional features include optic disc hypoplasia, ptosis, hypo- or hyperpigmented skin lesions, nonspecific dysmorphic facial features, and brain imaging abnormalities of the ventricles or corpus callosum. Of note, not all patients exhibit all features, and there is significant inter- and intrafamilial phenotypic variability (Dworschak et al., 2021).

Professional guidelines

PubMed

Das S, Kuht HJ, De Silva I, Deol SS, Osman L, Burns J, Sarvananthan N, Sarodia U, Kapoor B, Islam T, Sampath R, Poyser A, Konidaris V, Anzidei R, Proudlock FA, Thomas MG
Eye (Lond) 2023 Feb;37(2):274-279. Epub 2022 Jan 12 doi: 10.1038/s41433-021-01926-y. PMID: 35022568Free PMC Article
Theodossiadis G, Theodossiadis P, Chatziralli I
Semin Ophthalmol 2020 May 18;35(4):232-236. Epub 2020 Aug 18 doi: 10.1080/08820538.2020.1809684. PMID: 32809892
Wan R, Chang A
Clin Exp Optom 2020 Jul;103(4):425-429. Epub 2019 Aug 22 doi: 10.1111/cxo.12957. PMID: 31441129

Recent clinical studies

Etiology

da Cruz NFS, Sengillo JD, Fan J, Negron CI, Felder MB, Berrocal AM
Am J Ophthalmol 2023 Aug;252:130-134. Epub 2023 Mar 25 doi: 10.1016/j.ajo.2023.03.024. PMID: 36972742
Mirzayev I, Gündüz AK, Biçer Ö, Tarlan B
J Pediatr Ophthalmol Strabismus 2021 May-Jun;58(3):161-167. Epub 2021 May 1 doi: 10.3928/01913913-20210108-01. PMID: 34039153
Menezes C, Ribeiro I, Coelho P, Mateus C, Teixeira C
Acta Med Port 2016 Apr;29(4):254-60. Epub 2016 Apr 29 doi: 10.20344/amp.6871. PMID: 27349777
Beby F
Curr Eye Res 2015 Apr;40(4):450-5. Epub 2014 Jun 9 doi: 10.3109/02713683.2014.925931. PMID: 24911672
Yoshikawa T, Nishimura T, Minamino K, Takahashi K
Int Ophthalmol 2013 Aug;33(4):425-8. Epub 2012 Nov 13 doi: 10.1007/s10792-012-9673-7. PMID: 23150047

Diagnosis

da Cruz NFS, Sengillo JD, Fan J, Negron CI, Felder MB, Berrocal AM
Am J Ophthalmol 2023 Aug;252:130-134. Epub 2023 Mar 25 doi: 10.1016/j.ajo.2023.03.024. PMID: 36972742
Mirzayev I, Gündüz AK, Biçer Ö, Tarlan B
J Pediatr Ophthalmol Strabismus 2021 May-Jun;58(3):161-167. Epub 2021 May 1 doi: 10.3928/01913913-20210108-01. PMID: 34039153
Jiang Y, Ouyang J, Li S, Xiao X, Sun W, Zhang Q
Mol Vis 2021;27:50-60. Epub 2021 Jan 20 PMID: 33633439Free PMC Article
Keles A, Ilhan C, Teke MY, Tekin K
Eur J Ophthalmol 2020 Sep;30(5):NP36-NP40. Epub 2020 Jun 12 doi: 10.1177/1120672120934961. PMID: 32530711
Beby F
Curr Eye Res 2015 Apr;40(4):450-5. Epub 2014 Jun 9 doi: 10.3109/02713683.2014.925931. PMID: 24911672

Prognosis

Bass SJ, Westcott J, Sherman J
Optom Vis Sci 2016 Oct;93(10):1285-91. doi: 10.1097/OPX.0000000000000951. PMID: 27529609
Yoshikawa T, Nishimura T, Minamino K, Takahashi K
Int Ophthalmol 2013 Aug;33(4):425-8. Epub 2012 Nov 13 doi: 10.1007/s10792-012-9673-7. PMID: 23150047
Kiratli H, Sekeroğlu MA, Tezel GG
Orbit 2008;27(3):165-8. doi: 10.1080/01676830701523889. PMID: 18569821

Clinical prediction guides

da Cruz NFS, Sengillo JD, Fan J, Negron CI, Felder MB, Berrocal AM
Am J Ophthalmol 2023 Aug;252:130-134. Epub 2023 Mar 25 doi: 10.1016/j.ajo.2023.03.024. PMID: 36972742
Mirzayev I, Gündüz AK, Biçer Ö, Tarlan B
J Pediatr Ophthalmol Strabismus 2021 May-Jun;58(3):161-167. Epub 2021 May 1 doi: 10.3928/01913913-20210108-01. PMID: 34039153
Beby F
Curr Eye Res 2015 Apr;40(4):450-5. Epub 2014 Jun 9 doi: 10.3109/02713683.2014.925931. PMID: 24911672
Guo X, Xiao X, Li S, Wang P, Jia X, Zhang Q
Arch Ophthalmol 2010 Nov;128(11):1473-9. doi: 10.1001/archophthalmol.2010.270. PMID: 21060050
Ribeiro IM, Vale PJ, Tenedorio PA, Rodrigues PA, Bilhoto MA, Pereira HC
Eur J Ophthalmol 2007 Jan-Feb;17(1):104-9. doi: 10.1177/112067210701700114. PMID: 17294389

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