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Pigmentation of the sclera

MedGen UID:
347969
Concept ID:
C1859882
Finding
Synonym: Pigmentation of the outer white part of the eyeball
 
HPO: HP:0007832

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPigmentation of the sclera

Conditions with this feature

Alkaptonuria
MedGen UID:
1413
Concept ID:
C0002066
Disease or Syndrome
Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. The three major features of alkaptonuria are dark urine or urine that turns dark on standing, ochronosis (bluish-black pigmentation in connective tissue), and arthritis of the spine and larger joints. Ochronosis generally occurs after age 30 years; arthritis often begins in the third decade. Other manifestations can include pigment in the sclera, ear cartilage, and skin of the hands; aortic or mitral valve calcification or regurgitation and occasionally aortic dilatation; renal stones; prostate stones; and hypothyroidism.
Carney complex, type 1
MedGen UID:
388559
Concept ID:
C2607929
Disease or Syndrome
Carney complex (CNC) is characterized by skin pigmentary abnormalities, myxomas, endocrine tumors or overactivity, and schwannomas. Pale brown to black lentigines are the most common presenting feature of CNC and typically increase in number at puberty. Cardiac myxomas occur at a young age, may occur in any or all cardiac chambers, and can manifest as intracardiac obstruction of blood flow, embolic phenomenon, and/or heart failure. Other sites for myxomas include the skin, breast, oropharynx, and female genital tract. Primary pigmented nodular adrenocortical disease (PPNAD), which causes Cushing syndrome, is the most frequently observed endocrine tumor in CNC, occurring in approximately 25% of affected individuals. Large-cell calcifying Sertoli cell tumors (LCCSCTs) are observed in one third of affected males within the first decade and in most adult males. Up to 75% of individuals with CNC have multiple thyroid nodules, most of which are nonfunctioning thyroid follicular adenomas. Clinically evident acromegaly from a growth hormone (GH)-producing adenoma is evident in approximately 10% of adults. Psammomatous melanotic schwannoma (PMS), a rare tumor of the nerve sheath, occurs in an estimated 10% of affected individuals. The median age of diagnosis is 20 years.

Professional guidelines

PubMed

Outlaw F, Nixon M, Odeyemi O, MacDonald LW, Meek J, Leung TS
PLoS One 2020;15(3):e0216970. Epub 2020 Mar 2 doi: 10.1371/journal.pone.0216970. PMID: 32119664Free PMC Article
Habot-Wilner Z, Noronha G, Wykoff CC
Acta Ophthalmol 2019 Aug;97(5):460-472. Epub 2019 Jan 31 doi: 10.1111/aos.14042. PMID: 30702218
Herrera AS, del Carmen Arias Esparza M, Solís Arias PE, Ávila-Rodriguez M, Barreto GE, Li Y, Bachurin SO, Aliev G
CNS Neurol Disord Drug Targets 2016;15(2):135-40. doi: 10.2174/1871527315666160202122943. PMID: 26831264

Recent clinical studies

Etiology

Stepanov A
Cesk Slov Oftalmol 2023 Winter;3(Ahead of Print):1001-1005. PMID: 38016808
Monavarfeshani A, Yan W, Pappas C, Odenigbo KA, He Z, Segrè AV, van Zyl T, Hageman GS, Sanes JR
Proc Natl Acad Sci U S A 2023 Aug 22;120(34):e2306153120. Epub 2023 Aug 11 doi: 10.1073/pnas.2306153120. PMID: 37566633Free PMC Article
Hüppi R, Wagels B, Todorova M
Klin Monbl Augenheilkd 2022 Apr;239(4):435-442. Epub 2022 Mar 23 doi: 10.1055/a-1766-7320. PMID: 35320867
Jonas JB, Ohno-Matsui K, Holbach L, Panda-Jonas S
Acta Ophthalmol 2020 Nov;98(7):e856-e863. Epub 2020 Mar 19 doi: 10.1111/aos.14405. PMID: 32190987
Gurelik G, Sul S, Gocun PU, Korkmaz S, Ozsaygili C
Lasers Med Sci 2019 Feb;34(1):11-14. Epub 2018 Jun 29 doi: 10.1007/s10103-018-2570-1. PMID: 29959631

Diagnosis

Wakabayashi T, Yonekawa Y, Ohno-Matsui K, Cohen SY, Rowland C, Pulido JS
Retin Cases Brief Rep 2024 Jan 1;18(1):11-14. doi: 10.1097/ICB.0000000000001308. PMID: 36007179
Hüppi R, Wagels B, Todorova M
Klin Monbl Augenheilkd 2022 Apr;239(4):435-442. Epub 2022 Mar 23 doi: 10.1055/a-1766-7320. PMID: 35320867
Jonas JB, Ohno-Matsui K, Holbach L, Panda-Jonas S
Acta Ophthalmol 2020 Nov;98(7):e856-e863. Epub 2020 Mar 19 doi: 10.1111/aos.14405. PMID: 32190987
Pichi F, Aggarwal K, Neri P, Salvetti P, Lembo A, Nucci P, Gemmy Cheung CM, Gupta V
Indian J Ophthalmol 2018 Dec;66(12):1716-1726. doi: 10.4103/ijo.IJO_893_18. PMID: 30451172Free PMC Article
Yancovitz M, Anolik R, Pomeranz MK
Dermatol Online J 2010 Nov 15;16(11):6. PMID: 21163157

Therapy

Hüppi R, Wagels B, Todorova M
Klin Monbl Augenheilkd 2022 Apr;239(4):435-442. Epub 2022 Mar 23 doi: 10.1055/a-1766-7320. PMID: 35320867
Roy Chowdhury U, Rinkoski TA, Bahler CK, Millar JC, Bertrand JA, Holman BH, Sherwood JM, Overby DR, Stoltz KL, Dosa PI, Fautsch MP
Invest Ophthalmol Vis Sci 2017 Nov 1;58(13):5731-5742. doi: 10.1167/iovs.17-22538. PMID: 29114841Free PMC Article
Yancovitz M, Anolik R, Pomeranz MK
Dermatol Online J 2010 Nov 15;16(11):6. PMID: 21163157
Turgay E, Canat D, Gurel MS, Yuksel T, Baran MF, Demirkesen C
Clin Exp Dermatol 2009 Dec;34(8):e865-8. doi: 10.1111/j.1365-2230.2009.03618.x. PMID: 20055850
Sánchez AR, Rogers RS 3rd, Sheridan PJ
Int J Dermatol 2004 Oct;43(10):709-15. doi: 10.1111/j.1365-4632.2004.02108.x. PMID: 15485524

Prognosis

Travessa AM, Dias P, Rosmaninho-Salgado J, Aza-Carmona M, Moldovan O, Díaz-González F, Godinho F, Romeu JC, Oliveira-Ramos F, do Céu Barreiros M, Sousa SB, Heath KE, Sousa AB
Eur J Med Genet 2023 Nov;66(11):104867. Epub 2023 Oct 13 doi: 10.1016/j.ejmg.2023.104867. PMID: 37839784
Hüppi R, Wagels B, Todorova M
Klin Monbl Augenheilkd 2022 Apr;239(4):435-442. Epub 2022 Mar 23 doi: 10.1055/a-1766-7320. PMID: 35320867
Al-Qahtani AA, Ba-Ali S, Alabduljalil T, Coyner AS, Patel RC, Weleber RG, Girach A, Christensen SK, Larsen M, Pennesi ME, Yang P
Retina 2018 Sep;38(9):1725-1730. doi: 10.1097/IAE.0000000000001957. PMID: 29160785Free PMC Article
Elagouz M, Stanescu-Segall D, Jackson TL
Surv Ophthalmol 2010 Mar-Apr;55(2):134-45. doi: 10.1016/j.survophthal.2009.05.003. PMID: 20159229
Liesegang TJ
Mayo Clin Proc 1994 Feb;69(2):151-61. doi: 10.1016/s0025-6196(12)61042-8. PMID: 8309267

Clinical prediction guides

Stepanov A
Cesk Slov Oftalmol 2023 Winter;3(Ahead of Print):1001-1005. PMID: 38016808
Stepanov A
Cesk Slov Oftalmol 2023 Spring;79(4):163-166. doi: 10.31348/2023/9. PMID: 37567771
Park J, Moon S, Lim S, Demer JL
Am J Ophthalmol 2023 Oct;254:114-127. Epub 2023 Jun 19 doi: 10.1016/j.ajo.2023.06.008. PMID: 37343739
Wang L, Schmidt S, Larsen PP, Meyer JH, Roush WR, Latz E, Holz FG, Krohne TU
J Mol Med (Berl) 2019 Apr;97(4):523-532. Epub 2019 Feb 10 doi: 10.1007/s00109-019-01753-5. PMID: 30739141
Khor CC, Miyake M, Chen LJ, Shi Y, Barathi VA, Qiao F, Nakata I, Yamashiro K, Zhou X, Tam PO, Cheng CY, Tai ES, Vithana EN, Aung T, Teo YY, Wong TY, Moriyama M, Ohno-Matsui K, Mochizuki M, Matsuda F; Nagahama Study Group, Yong RY, Yap EP, Yang Z, Pang CP, Saw SM, Yoshimura N
Hum Mol Genet 2013 Dec 20;22(25):5288-94. Epub 2013 Aug 9 doi: 10.1093/hmg/ddt385. PMID: 23933737

Recent systematic reviews

Lindner M, Bertelmann T
BMC Ophthalmol 2014 Jan 30;14:12. doi: 10.1186/1471-2415-14-12. PMID: 24479547Free PMC Article

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