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Retinal thinning

MedGen UID:
762617
Concept ID:
C3549703
Finding
HPO: HP:0030329

Definition

Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT). [from HPO]

Conditions with this feature

Sjögren-Larsson syndrome
MedGen UID:
11443
Concept ID:
C0037231
Disease or Syndrome
Sjogren-Larsson syndrome (SLS) is an autosomal recessive, early childhood-onset disorder characterized by ichthyosis, impaired intellectual development, spastic paraparesis, macular dystrophy, and leukoencephalopathy. It is caused by deficiency of fatty aldehyde dehydrogenase (summary by Lossos et al., 2006).
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
MedGen UID:
324684
Concept ID:
C1837073
Disease or Syndrome
Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) is characterized by postnatal growth deficiency resulting in profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction (summary by Hoover-Fong et al., 2014). Yamamoto et al. (2014) reviewed 16 reported cases of SMDCRD, noting that all affected individuals presented uniform skeletal findings, with rhizomelia and bowed lower limbs observed in the first year of life, whereas retinal dystrophy had a more variable age of onset. There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild. Visual loss was progressive, with stabilization in adolescence.
Multiple epiphyseal dysplasia, Beighton type
MedGen UID:
377049
Concept ID:
C1851536
Disease or Syndrome
A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia, visual impairment (with early-onset progressive myopia, retinal thinning, and cataracts), and conductive hearing loss. Patients are of short stature and present brachydactyly, genu valgus deformity, and joint pain.
Achromatopsia 2
MedGen UID:
387867
Concept ID:
C1857618
Disease or Syndrome
Achromatopsia is characterized by reduced visual acuity, pendular nystagmus, increased sensitivity to light (photophobia), a small central scotoma, eccentric fixation, and reduced or complete loss of color discrimination. All individuals with achromatopsia (achromats) have impaired color discrimination along all three axes of color vision corresponding to the three cone classes: the protan or long-wavelength-sensitive cone axis (red), the deutan or middle-wavelength-sensitive cone axis (green), and the tritan or short-wavelength-sensitive cone axis (blue). Most individuals have complete achromatopsia, with total lack of function of all three types of cones. Rarely, individuals have incomplete achromatopsia, in which one or more cone types may be partially functioning. The manifestations are similar to those of individuals with complete achromatopsia, but generally less severe. Hyperopia is common in achromatopsia. Nystagmus develops during the first few weeks after birth followed by increased sensitivity to bright light. Best visual acuity varies with severity of the disease; it is 20/200 or less in complete achromatopsia and may be as high as 20/80 in incomplete achromatopsia. Visual acuity is usually stable over time; both nystagmus and sensitivity to bright light may improve slightly. Although the fundus is usually normal, macular changes (which may show early signs of progression) and vessel narrowing may be present in some affected individuals. Defects in the macula are visible on optical coherence tomography.
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
MedGen UID:
863258
Concept ID:
C4014821
Disease or Syndrome
Poretti-Boltshauser syndrome is an autosomal recessive disorder characterized by cerebellar dysplasia, cerebellar vermis hypoplasia, cerebellar cysts in most patients, high myopia, variable retinal dystrophy, and eye movement abnormalities. Affected individuals have delayed motor development and often have speech delay. Cognitive function can range from normal to intellectually disabled (summary by Aldinger et al., 2014).
Retinitis pigmentosa 76
MedGen UID:
934671
Concept ID:
C4310704
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene.
Bardet-biedl syndrome 21
MedGen UID:
1374358
Concept ID:
C4319932
Disease or Syndrome
BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment (Heon et al., 2016; Khan et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).
Retinitis pigmentosa 89
MedGen UID:
1710499
Concept ID:
C5394552
Disease or Syndrome
Retinitis pigmentosa-89 (RP89) is characterized by classic features of RP as well as features of ciliopathy, including postaxial polydactyly and renal and hepatic disease. Onset of symptoms is within the first decade of life (Cogne et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of RP, see 268000.
Cone-rod synaptic disorder syndrome, congenital nonprogressive
MedGen UID:
1773574
Concept ID:
C5436505
Disease or Syndrome
Congenital nonprogressive cone-rod synaptic disorder syndrome (CRSDS) is characterized by retinal and neurodevelopmental disease as well as occasional anomalies of glucose homeostasis. Patients exhibit low vision, photophobia, and nystagmus, and show an electronegative waveform in response to bright flash under dark adaptation on electroretinography, with severely reduced and delayed light-adapted responses. Neurodevelopmental features include poor to no language and autistic behaviors (Mechaussier et al., 2020).
Hypotaurinemic retinal degeneration and cardiomyopathy
MedGen UID:
1779589
Concept ID:
C5542181
Disease or Syndrome
Hypotaurinemic retinal degeneration and cardiomyopathy (HTRDC) is an autosomal recessive disorder characterized by low plasma taurine, childhood-onset progressive retinal degeneration, and cardiomyopathy (Ansar et al., 2020).
Retinitis pigmentosa 96
MedGen UID:
1824076
Concept ID:
C5774303
Disease or Syndrome
Retinitis pigmentosa-96 (RP96) is characterized by difficulty with night vision and progressive visual field constriction beginning as early as the third decade of life, but most patients retain good visual acuity into the seventh decade. Funduscopy shows the typical features of RP, including bone-spicule pigmentation, attenuation of retinal vasculature, optic disc pallor, and cystic macular edema. Unlike patients with biallelic mutations in the SAG gene, they do not show the golden sheen of the fundus that is typical of Oguchi disease (Sullivan et al., 2017). For a general phenotypic description and discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.

Professional guidelines

PubMed

Tamplin MR, Wang JK, Binkley EM, Garvin MK, Hyer DE, Buatti JM, Boldt HC, Grumbach IM, Kardon RH
Sci Rep 2024 Feb 9;14(1):3380. doi: 10.1038/s41598-024-53830-6. PMID: 38336828Free PMC Article
Leley SP, Ciulla TA, Bhatwadekar AD
Clin Interv Aging 2021;16:1367-1378. Epub 2021 Jul 15 doi: 10.2147/CIA.S297494. PMID: 34290499Free PMC Article
Gibson JM, Gibson SJ
Expert Opin Drug Saf 2014 Sep;13(9):1259-70. Epub 2014 Aug 5 doi: 10.1517/14740338.2014.939951. PMID: 25091039

Recent clinical studies

Etiology

Farrah TE, Pugh D, Chapman FA, Godden E, Balmforth C, Oniscu GC, Webb DJ, Dhillon B, Dear JW, Bailey MA, Gallacher PJ, Dhaun N
Nat Commun 2023 Dec 5;14(1):7720. doi: 10.1038/s41467-023-43125-1. PMID: 38052813Free PMC Article
Geannopoulos K, McMahan C, Maldonado RS, Abbott A, Knickelbein J, Agron E, Wu T, Snow J, Nair G, Horne E, Lau CY, Nath A, Chew EY, Smith BR
J Acquir Immune Defic Syndr 2022 Oct 1;91(2):210-216. doi: 10.1097/QAI.0000000000003048. PMID: 36094488Free PMC Article
Rashid AS, Rashid D, Yang G, Link H, Gauffin H, Huang-Link Y
Brain Behav 2021 Oct;11(10):e2345. Epub 2021 Sep 6 doi: 10.1002/brb3.2345. PMID: 34487632Free PMC Article
Leahy KE, Wright T, Grudzinska Pechhacker MK, Audo I, Tumber A, Tavares E, MacDonald H, Locke J, VandenHoven C, Zeitz C, Heon E, Buncic JR, Vincent A
Genes (Basel) 2021 Feb 25;12(3) doi: 10.3390/genes12030330. PMID: 33668843Free PMC Article
Holtan JP, Teigen K, Aukrust I, Bragadóttir R, Houge G
Ophthalmic Genet 2019 Apr;40(2):124-128. Epub 2019 Apr 1 doi: 10.1080/13816810.2019.1586965. PMID: 30932721

Diagnosis

Geannopoulos K, McMahan C, Maldonado RS, Abbott A, Knickelbein J, Agron E, Wu T, Snow J, Nair G, Horne E, Lau CY, Nath A, Chew EY, Smith BR
J Acquir Immune Defic Syndr 2022 Oct 1;91(2):210-216. doi: 10.1097/QAI.0000000000003048. PMID: 36094488Free PMC Article
Hopf S, Schuster AK, Hennermann JB, Pfeiffer N, Pitz S
Graefes Arch Clin Exp Ophthalmol 2022 Apr;260(4):1153-1160. Epub 2021 Oct 12 doi: 10.1007/s00417-021-05424-5. PMID: 34636993Free 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
Jonas JB, Ohno-Matsui K, Panda-Jonas S
Asia Pac J Ophthalmol (Phila) 2019 Sep-Oct;8(5):355-359. doi: 10.1097/01.APO.0000578944.25956.8b. PMID: 31425168Free PMC Article
Jindal V
Mol Neurobiol 2015;51(3):885-92. Epub 2014 May 15 doi: 10.1007/s12035-014-8733-6. PMID: 24826919

Therapy

Küchlin S, Ihorst G, Heinrich SP, Márquez Neila P, Albrecht P, Hug MJ, Diem R, Lagrèze WA
Neurol Neuroimmunol Neuroinflamm 2024 May;11(3):e200223. Epub 2024 Apr 8 doi: 10.1212/NXI.0000000000200223. PMID: 38588480Free PMC Article
Rodriguez-Martinez AC, Wawrzynski J, Henderson RH
Curr Opin Ophthalmol 2024 May 1;35(3):232-237. Epub 2023 Dec 26 doi: 10.1097/ICU.0000000000001029. PMID: 38170785
Lin FL, Cheng YW, Chen LH, Ho JD, Yen JL, Wang MH, Lee TH, Hsiao G
Biomed Pharmacother 2023 Feb;158:114138. Epub 2022 Dec 17 doi: 10.1016/j.biopha.2022.114138. PMID: 36535199
Ahn SJ, Seo EJ, Kim KE, Kim YJ, Lee BR, Kim JG, Yoon YH, Lee JY
Ophthalmology 2021 Jun;128(6):889-898. Epub 2020 Oct 28 doi: 10.1016/j.ophtha.2020.10.029. PMID: 33129843
Gibson JM, Gibson SJ
Expert Opin Drug Saf 2014 Sep;13(9):1259-70. Epub 2014 Aug 5 doi: 10.1517/14740338.2014.939951. PMID: 25091039

Prognosis

Küchlin S, Ihorst G, Heinrich SP, Márquez Neila P, Albrecht P, Hug MJ, Diem R, Lagrèze WA
Neurol Neuroimmunol Neuroinflamm 2024 May;11(3):e200223. Epub 2024 Apr 8 doi: 10.1212/NXI.0000000000200223. PMID: 38588480Free PMC Article
Farrah TE, Pugh D, Chapman FA, Godden E, Balmforth C, Oniscu GC, Webb DJ, Dhillon B, Dear JW, Bailey MA, Gallacher PJ, Dhaun N
Nat Commun 2023 Dec 5;14(1):7720. doi: 10.1038/s41467-023-43125-1. PMID: 38052813Free 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
Rashid AS, Rashid D, Yang G, Link H, Gauffin H, Huang-Link Y
Brain Behav 2021 Oct;11(10):e2345. Epub 2021 Sep 6 doi: 10.1002/brb3.2345. PMID: 34487632Free PMC Article
Borgström M, Tisell A, Link H, Wilhelm E, Lundberg P, Huang-Link Y
Acta Neurol Scand 2020 Nov;142(5):418-427. Epub 2020 Jun 4 doi: 10.1111/ane.13282. PMID: 32416627

Clinical prediction guides

Farrah TE, Pugh D, Chapman FA, Godden E, Balmforth C, Oniscu GC, Webb DJ, Dhillon B, Dear JW, Bailey MA, Gallacher PJ, Dhaun N
Nat Commun 2023 Dec 5;14(1):7720. doi: 10.1038/s41467-023-43125-1. PMID: 38052813Free PMC Article
Lin TY, Wu PL, Kang EY, Chi YC, Jenny LA, Lin PH, Lee CY, Liu CH, Liu L, Yeh LK, Chen KJ, Hwang YS, Wu WC, Lai CC, Hsiao MC, Liu PK, Wang NK
Invest Ophthalmol Vis Sci 2023 Nov 1;64(14):25. doi: 10.1167/iovs.64.14.25. PMID: 37975849Free PMC Article
Geannopoulos K, McMahan C, Maldonado RS, Abbott A, Knickelbein J, Agron E, Wu T, Snow J, Nair G, Horne E, Lau CY, Nath A, Chew EY, Smith BR
J Acquir Immune Defic Syndr 2022 Oct 1;91(2):210-216. doi: 10.1097/QAI.0000000000003048. PMID: 36094488Free PMC Article
Rashid AS, Rashid D, Yang G, Link H, Gauffin H, Huang-Link Y
Brain Behav 2021 Oct;11(10):e2345. Epub 2021 Sep 6 doi: 10.1002/brb3.2345. PMID: 34487632Free PMC Article
Holtan JP, Teigen K, Aukrust I, Bragadóttir R, Houge G
Ophthalmic Genet 2019 Apr;40(2):124-128. Epub 2019 Apr 1 doi: 10.1080/13816810.2019.1586965. PMID: 30932721

Recent systematic reviews

Komatsu H, Onoguchi G, Silverstein SM, Jerotic S, Sakuma A, Kanahara N, Kakuto Y, Ono T, Yabana T, Nakazawa T, Tomita H
Mol Psychiatry 2024 Feb;29(2):464-482. Epub 2023 Dec 11 doi: 10.1038/s41380-023-02340-4. PMID: 38081943Free PMC Article
Hagag AM, Kaye R, Hoang V, Riedl S, Anders P, Stuart B, Traber G, Appenzeller-Herzog C, Schmidt-Erfurth U, Bogunovic H, Scholl HP, Prevost T, Fritsche L, Rueckert D, Sivaprasad S, Lotery AJ
Surv Ophthalmol 2024 Mar-Apr;69(2):165-172. Epub 2023 Oct 27 doi: 10.1016/j.survophthal.2023.10.010. PMID: 37890677
Dhalla A, Pallikadavath S, Hutchinson CV
J Huntingtons Dis 2019;8(2):233-242. doi: 10.3233/JHD-180340. PMID: 30932892

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