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Abnormality of refraction

MedGen UID:
871349
Concept ID:
C4025843
Anatomical Abnormality
Synonym: Refraction abnormalities
 
HPO: HP:0000539

Definition

An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina. [from HPO]

Conditions with this feature

Williams syndrome
MedGen UID:
59799
Concept ID:
C0175702
Disease or Syndrome
Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvar aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty). Feeding difficulties often lead to poor weight gain in infancy. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones.
Tyrosinase-negative oculocutaneous albinism
MedGen UID:
1643910
Concept ID:
C4551504
Disease or Syndrome
Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia).\n\nResearchers have identified multiple types of oculocutaneous albinism, which are distinguished by their specific skin, hair, and eye color changes and by their genetic cause. Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. Type 2 is typically less severe than type 1; the skin is usually a creamy white color and hair may be light yellow, blond, or light brown. Type 3 includes a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people. Affected individuals have reddish-brown skin, ginger or red hair, and hazel or brown irises. Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen with type 2.\n\nSeveral additional types of this disorder have been proposed, each affecting one or a few families.

Professional guidelines

PubMed

Ravenscroft G, Clayton JS, Faiz F, Sivadorai P, Milnes D, Cincotta R, Moon P, Kamien B, Edwards M, Delatycki M, Lamont PJ, Chan SH, Colley A, Ma A, Collins F, Hennington L, Zhao T, McGillivray G, Ghedia S, Chao K, O'Donnell-Luria A, Laing NG, Davis MR
J Med Genet 2021 Sep;58(9):609-618. Epub 2020 Oct 15 doi: 10.1136/jmedgenet-2020-106901. PMID: 33060286Free PMC Article
Yu X, Chen W, Xu W
J Cataract Refract Surg 2020 Dec;46(12):1674-1679. doi: 10.1097/j.jcrs.0000000000000334. PMID: 32694307
Rowe B, Yosipovitch G
Curr Probl Dermatol 2016;50:149-54. Epub 2016 Aug 23 doi: 10.1159/000446060. PMID: 27578084

Recent clinical studies

Etiology

Flitcroft I, Ainsworth J, Chia A, Cotter S, Harb E, Jin ZB, Klaver CCW, Moore AT, Nischal KK, Ohno-Matsui K, Paysse EA, Repka MX, Smirnova IY, Snead M, Verhoeven VJM, Verkicharla PK
Invest Ophthalmol Vis Sci 2023 May 1;64(6):3. doi: 10.1167/iovs.64.6.3. PMID: 37126360Free PMC Article
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
Huang J, Basith SST, Patel S, Goetsch Weisman A, Brickman W, Mets MB, Mets-Halgrimson R
Ophthalmic Genet 2022 Aug;43(4):450-453. Epub 2022 Apr 5 doi: 10.1080/13816810.2022.2045512. PMID: 35382690
Flitcroft DI
Prog Retin Eye Res 2012 Nov;31(6):622-60. Epub 2012 Jul 4 doi: 10.1016/j.preteyeres.2012.06.004. PMID: 22772022

Diagnosis

Oke I, Ness SD, Peeler CE
J Binocul Vis Ocul Motil 2023 Jul 3;73(3):75-76. Epub 2023 Apr 12 PMID: 37043635
Alghamdi A, Khan MS, Dakhil TA
Middle East Afr J Ophthalmol 2022 Jul-Sep;29(3):147-155. Epub 2023 May 25 doi: 10.4103/meajo.meajo_207_22. PMID: 37408717Free 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
Yu X, Chen W, Xu W
J Cataract Refract Surg 2020 Dec;46(12):1674-1679. doi: 10.1097/j.jcrs.0000000000000334. PMID: 32694307
Touzé R, Bremond-Gignac D, Robert MP
Neurochirurgie 2019 Nov;65(5):310-317. Epub 2019 Sep 28 doi: 10.1016/j.neuchi.2019.09.016. PMID: 31574284

Therapy

Kumar NR, Praveen M, Narasimhan R, Khamar P, D'Souza S, Sinha-Roy A, Sethu S, Shetty R, Ghosh A
Indian J Ophthalmol 2023 Apr;71(4):1190-1202. doi: 10.4103/IJO.IJO_2981_22. PMID: 37026250Free PMC Article
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
Szczotka-Flynn LB, Maguire MG, Ying GS, Lin MC, Bunya VY, Dana R, Asbell PA; Dry Eye Assessment and Management (DREAM) Study Research Group
Optom Vis Sci 2019 Jun;96(6):387-396. doi: 10.1097/OPX.0000000000001387. PMID: 31116166Free PMC Article
Flitcroft DI
Prog Retin Eye Res 2012 Nov;31(6):622-60. Epub 2012 Jul 4 doi: 10.1016/j.preteyeres.2012.06.004. PMID: 22772022

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
Christou EE, Zafeiropoulos P, Rallis D, Baltogianni M, Asproudis C, Stefaniotou M, Giapros V, Asproudis I
Semin Ophthalmol 2022 Feb 17;37(2):215-221. Epub 2021 Jul 19 doi: 10.1080/08820538.2021.1955134. PMID: 34280068
Rapuano CJ
Klin Monbl Augenheilkd 2016 Jun;233(6):695-700. Epub 2016 Jun 17 doi: 10.1055/s-0042-100734. PMID: 27315289
Witmer MT, Margo CE, Drucker M
Surv Ophthalmol 2010 Sep-Oct;55(5):403-28. Epub 2010 Jul 10 doi: 10.1016/j.survophthal.2010.01.002. PMID: 20621322
Berninger TA, Arden GB
Eye (Lond) 1988;2 Suppl:S257-83. doi: 10.1038/eye.1988.149. PMID: 3076152

Clinical prediction guides

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
Ravenscroft G, Clayton JS, Faiz F, Sivadorai P, Milnes D, Cincotta R, Moon P, Kamien B, Edwards M, Delatycki M, Lamont PJ, Chan SH, Colley A, Ma A, Collins F, Hennington L, Zhao T, McGillivray G, Ghedia S, Chao K, O'Donnell-Luria A, Laing NG, Davis MR
J Med Genet 2021 Sep;58(9):609-618. Epub 2020 Oct 15 doi: 10.1136/jmedgenet-2020-106901. PMID: 33060286Free PMC Article
Szczotka-Flynn LB, Maguire MG, Ying GS, Lin MC, Bunya VY, Dana R, Asbell PA; Dry Eye Assessment and Management (DREAM) Study Research Group
Optom Vis Sci 2019 Jun;96(6):387-396. doi: 10.1097/OPX.0000000000001387. PMID: 31116166Free PMC Article
Rapuano CJ
Klin Monbl Augenheilkd 2016 Jun;233(6):695-700. Epub 2016 Jun 17 doi: 10.1055/s-0042-100734. PMID: 27315289
Flitcroft DI
Prog Retin Eye Res 2012 Nov;31(6):622-60. Epub 2012 Jul 4 doi: 10.1016/j.preteyeres.2012.06.004. PMID: 22772022

Recent systematic reviews

Li M, Liu S, Huang W, Zhang J
Aging (Albany NY) 2021 Jun 11;13(11):15674-15687. doi: 10.18632/aging.203147. PMID: 34118792Free PMC Article
Yu X, Chen W, Xu W
J Cataract Refract Surg 2020 Dec;46(12):1674-1679. doi: 10.1097/j.jcrs.0000000000000334. PMID: 32694307
Taylor K, Elliott S
Cochrane Database Syst Rev 2014 Jul 23;2014(7):CD006461. doi: 10.1002/14651858.CD006461.pub4. PMID: 25051925Free PMC Article
Taylor K, Elliott S
Cochrane Database Syst Rev 2011 Aug 10;(8):CD006461. doi: 10.1002/14651858.CD006461.pub3. PMID: 21833955
Shotton K, Elliott S
Cochrane Database Syst Rev 2008 Apr 16;(2):CD006461. doi: 10.1002/14651858.CD006461.pub2. PMID: 18425952

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