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Abnormality of vision

MedGen UID:
871352
Concept ID:
C4025846
Finding
Synonyms: Abnormality of sight; Vision issue
 
HPO: HP:0000504

Definition

Abnormality of eyesight (visual perception). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormality of vision

Conditions with this feature

Keratosis pilaris atrophicans
MedGen UID:
75520
Concept ID:
C0263428
Disease or Syndrome
Keratosis pilaris atrophicans (KPA) represents a group of rare genodermatoses characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin. Keratosis pilaris of extensor surfaces of limbs is a common associated finding. Affected individuals may present with features that overlap between 3 subtypes, keratosis pilaris atrophicans faciei (KPAF), keratosis follicularis spinulosa decalvans (KFSD), and atrophoderma vermiculata (AVA; see 209700) (summary by Klar et al., 2015).
Autosomal recessive nonsyndromic hearing loss 35
MedGen UID:
324897
Concept ID:
C1837857
Disease or Syndrome
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESRRB gene.
Microphthalmia, isolated, with coloboma 5
MedGen UID:
369356
Concept ID:
C1968843
Disease or Syndrome
Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene.
Kohlschutter-Tonz syndrome-like
MedGen UID:
1781649
Concept ID:
C5543202
Disease or Syndrome
Den Hoed-de Boer-Voisin syndrome (DHDBV) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. The phenotype is reminiscent of Kohlschutter-Tonz syndrome (KTZS; 226750). More variable features of DHDBV include visual defects, behavioral abnormalities, and nonspecific involvement of other organ systems (summary by den Hoed et al., 2021).

Professional guidelines

PubMed

Stanton E, Urata M, Chen JF, Chai Y
Dis Model Mech 2022 Apr 1;15(4) Epub 2022 Apr 22 doi: 10.1242/dmm.049390. PMID: 35451466Free PMC Article
Wozniak JR, Riley EP, Charness ME
Lancet Neurol 2019 Aug;18(8):760-770. Epub 2019 May 31 doi: 10.1016/S1474-4422(19)30150-4. PMID: 31160204Free PMC Article
O'Shea TM
Clin Obstet Gynecol 2008 Dec;51(4):816-28. doi: 10.1097/GRF.0b013e3181870ba7. PMID: 18981805Free PMC Article

Recent clinical studies

Etiology

van Velthoven AJH, Utheim TP, Notara M, Bremond-Gignac D, Figueiredo FC, Skottman H, Aberdam D, Daniels JT, Ferrari G, Grupcheva C, Koppen C, Parekh M, Ritter T, Romano V, Ferrari S, Cursiefen C, Lagali N, LaPointe VLS, Dickman MM
Surv Ophthalmol 2023 Sep-Oct;68(5):940-956. Epub 2023 May 4 doi: 10.1016/j.survophthal.2023.04.003. PMID: 37146692
Islam YFK, Khurshid SG
Curr Opin Ophthalmol 2022 Nov 1;33(6):525-531. Epub 2022 Jul 12 doi: 10.1097/ICU.0000000000000863. PMID: 35819905
Zemanová M
Cesk Slov Oftalmol 2021 Winter;77(3):107–119. doi: 10.31348/2020/29. PMID: 34107689
Douglas KAA, Douglas VP, Cestari DM
Curr Opin Ophthalmol 2019 Nov;30(6):434-442. doi: 10.1097/ICU.0000000000000609. PMID: 31464700
Richa S, Yazbek JC
CNS Drugs 2010 Jun;24(6):501-26. doi: 10.2165/11533180-000000000-00000. PMID: 20443647

Diagnosis

Verghese P, Nyström M, Foulsham T, McGraw PV
Vision Res 2023 Oct;211:108296. Epub 2023 Jul 26 doi: 10.1016/j.visres.2023.108296. PMID: 37506496Free PMC Article
Zemanová M
Cesk Slov Oftalmol 2021 Winter;77(3):107–119. doi: 10.31348/2020/29. PMID: 34107689
Katz BJ, Digre KB
Surv Ophthalmol 2016 Jul-Aug;61(4):466-77. Epub 2016 Feb 12 doi: 10.1016/j.survophthal.2016.02.001. PMID: 26875996
Clark-Gambelunghe MB, Clark DA
Pediatr Clin North Am 2015 Apr;62(2):367-84. Epub 2015 Jan 21 doi: 10.1016/j.pcl.2014.11.003. PMID: 25836703
Bhambhani V, Muenke M
Am Fam Physician 2014 Jan 1;89(1):37-43. PMID: 24444506Free PMC Article

Therapy

Rappon J, Chung C, Young G, Hunt C, Neitz J, Neitz M, Chalberg T
Br J Ophthalmol 2023 Nov;107(11):1709-1715. Epub 2022 Sep 1 doi: 10.1136/bjo-2021-321005. PMID: 36126105Free PMC Article
Zhang H, Gong R, Zhang X, Deng Y
Int Ophthalmol 2022 Nov;42(11):3625-3641. Epub 2022 Jun 22 doi: 10.1007/s10792-022-02355-w. PMID: 35731355Free PMC Article
Kaido M
Invest Ophthalmol Vis Sci 2018 Nov 1;59(14):DES29-DES35. doi: 10.1167/iovs.17-23721. PMID: 30481803
Saari JC
Subcell Biochem 2016;81:231-259. doi: 10.1007/978-94-024-0945-1_9. PMID: 27830507
Richa S, Yazbek JC
CNS Drugs 2010 Jun;24(6):501-26. doi: 10.2165/11533180-000000000-00000. PMID: 20443647

Prognosis

Zhang H, Gong R, Zhang X, Deng Y
Int Ophthalmol 2022 Nov;42(11):3625-3641. Epub 2022 Jun 22 doi: 10.1007/s10792-022-02355-w. PMID: 35731355Free PMC Article
McAnany JJ, Persidina OS, Park JC
Surv Ophthalmol 2022 May-Jun;67(3):712-722. Epub 2021 Sep 4 doi: 10.1016/j.survophthal.2021.08.011. PMID: 34487740Free PMC Article
Huna-Baron R, Yahalom G, Anikster Y, Ben Zeev B, Hoffmann C, Hassin-Baer S
J Neuroophthalmol 2022 Mar 1;42(1):e147-e152. Epub 2021 Apr 14 doi: 10.1097/WNO.0000000000001249. PMID: 33870938
Watt T, Robertson K, Jacobs RJ
Clin Exp Optom 2015 Jan;98(1):3-11. Epub 2014 Nov 13 doi: 10.1111/cxo.12232. PMID: 25395109
Levitt MA, Peña A
Orphanet J Rare Dis 2007 Jul 26;2:33. doi: 10.1186/1750-1172-2-33. PMID: 17651510Free PMC Article

Clinical prediction guides

Yang P, Liao W, Pu Y, Zhong Z, Wang H, Yu Q, Cai J, Wang W, Su G
Graefes Arch Clin Exp Ophthalmol 2023 Sep;261(9):2641-2650. Epub 2023 Apr 14 doi: 10.1007/s00417-023-06058-5. PMID: 37058172
Fels R
Am Orthopt J 2017 Jan;67(1):89-92. doi: 10.3368/aoj.67.1.89. PMID: 28904220
Hurren BJ, Flack NA
Clin Anat 2016 Jul;29(5):590-605. Epub 2016 Jan 29 doi: 10.1002/ca.22686. PMID: 26749552
Verma AS, Fitzpatrick DR
Orphanet J Rare Dis 2007 Nov 26;2:47. doi: 10.1186/1750-1172-2-47. PMID: 18039390Free PMC Article
Levitt MA, Peña A
Orphanet J Rare Dis 2007 Jul 26;2:33. doi: 10.1186/1750-1172-2-33. PMID: 17651510Free PMC Article

Recent systematic reviews

Galor A, Britten-Jones AC, Feng Y, Ferrari G, Goldblum D, Gupta PK, Merayo-Lloves J, Na KS, Naroo SA, Nichols KK, Rocha EM, Tong L, Wang MTM, Craig JP
Ocul Surf 2023 Apr;28:262-303. Epub 2023 Apr 11 doi: 10.1016/j.jtos.2023.04.008. PMID: 37054911
Perais J, Agarwal R, Evans JR, Loveman E, Colquitt JL, Owens D, Hogg RE, Lawrenson JG, Takwoingi Y, Lois N
Cochrane Database Syst Rev 2023 Feb 22;2(2):CD013775. doi: 10.1002/14651858.CD013775.pub2. PMID: 36815723Free PMC Article
Choi C, Mukovozov I, Jazdarehee A, Rai R, Sachdeva M, Shunmugam M, Zaslavsky K, Byun S, Barankin B
Australas J Dermatol 2022 May;63(2):172-189. Epub 2022 Jan 31 doi: 10.1111/ajd.13790. PMID: 35099068
Brouwer A, Nguyen HT, Snoek FJ, van Raalte DH, Beekman ATF, Moll AC, Bremmer MA
Acta Psychiatr Scand 2017 Dec;136(6):534-548. Epub 2017 Sep 10 doi: 10.1111/acps.12785. PMID: 28891192
Strzelczyk A, Zöllner JP, Willems LM, Jost J, Paule E, Schubert-Bast S, Rosenow F, Bauer S
Epilepsia 2017 Jun;58(6):933-950. Epub 2017 Mar 11 doi: 10.1111/epi.13716. PMID: 28295226

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