Ocular ochronosis: A case report and clinical findings

Cakmak, Sevin Soker; Çevik, Remzi; Aksünger, Ahmet; Ünlü, Kaan; Ava, Sedat

doi:10.1034/j.1600-0420.2002.800321.x

Cited by 13 publications

(9 citation statements)

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“…The mean age of our patients was 61.0 (Standard deviation: ±9.5) years, with the youngest patient being 14 and the oldest 83 years old. The age at which the ocular findings first appeared was only given in eight articles [25-32] and was 40.6 (Standard deviation: ±9.8, range 25 to 54) years.…”

Section: Resultsmentioning

confidence: 99%

“…D’Alessandro et al see them in the deeper layers of the sclera [70]. Conjunctival changes were also frequent (22 cases) but more heterogeneous in appearance [18,21-23,25-27,75-82,86-90]. There are four main types of appearance which may also occur in combination: 1) Small “vermiform” [88] or “tube-like” [76] pigment deposits (Figure 2, middle, with permission [88]) [18,27,76,81,86,88], 2) brown pingecula-like [81,87,89], 3) dot like [72,77] or 4) laminar structures [22].…”

Section: Resultsmentioning

confidence: 99%

“…There are four main types of appearance which may also occur in combination: 1) Small “vermiform” [88] or “tube-like” [76] pigment deposits (Figure 2, middle, with permission [88]) [18,27,76,81,86,88], 2) brown pingecula-like [81,87,89], 3) dot like [72,77] or 4) laminar structures [22]. Dilatated conjunctival vessels can be present and seemingly supply the pigmented areas [25,70,76,85,87,88]. Findings on the ocular surface are usually symptomless.…”

Section: Resultsmentioning

confidence: 99%

“…Pigment may also accumulate in the opaque portion of the limbus where it forms “oil drop”-like brown spots (Figure 2, right, with permission [31]), seen in 30 cases [17,18,21-23,25-29,31,70-81,86,88],[90,91]. In analog to the pigmentations of sclera and conjunctiva, also the limbal pigment drops follow a horizontal orientation.…”

Section: Resultsmentioning

confidence: 99%

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On the ocular findings in ochronosis: a systematic review of literature

Lindner

Bertelmann

2014

BMC Ophthalmol

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BackgroundOchronosis/Alkaptonuria is a tyrosine metabolism disorder where accumulation of homogentisic acid, in eye, skin, cartilage and several other connective tissues leads to a black pigmentation of the affected tissues. It is autosomal-recessive inherited in men with a frequency of 1-9/1,000,000. While it is clear that pigment deposits lead to joint destruction, renal stone formation and cardiac valvulopathy respectively, the significance of ocular findings is still unclear. We therefore aim to evaluate the frequency and clinical significance of ocular findings in ochronosis and discuss possible therapeutic options.MethodsSystematic review of literature via Medline and Web of Science. Only case reports in English, German, French, Spanish or Italian documenting detailed ophthalmologic examination were included.ResultsOur search revealed 36 case reports including 40 patients. Average age at the onset of ocular signs was 40.6 years. The most frequent sign was symmetric brown sclera pigmentation present in 82.5 percent of the patients. “Oil-drops”, brown pigment spots in the limbus are generally considered pathognomonic but were a little less frequent (75 percent). Vermiform pigment deposits at the level of the conjunctiva or increased conjunctival vessel diameter is also frequent. We found an increased incidence of central vein occlusion and elevated intraocular pressure going along with chamber angle hyperpigmentation. Another condition observed twice is rapid progressive astigmatism attributable to corneoscleral pigment accumulation.ConclusionOur observations suggest that ocular findings are of double relevance. First, characteristic ocular findings can anticipate the time of diagnosis and second, ocular findings may complicate to various conditions putting sight at risk. Opthalmologists and general physicians should be aware of both. Therapeutic options include protein restriction, administration of high dose vitamin C or nitisonone. Evidence for all of them is limited.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

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On the ocular findings in ochronosis: a systematic review of literature

Lindner

Bertelmann

2014

BMC Ophthalmol

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“…In one case ocular ochronotic pigmentation was misdiagnosed as melanosarcoma and one eye was mistakenly enucleated. 50 Although the diagnostic confirmation of alkaptonuria is easily made by alkanization of urine with quantitative determination of homogentisic acid in urine available, only 21% of patients are diagnosed before 1 year of age. 3 In a recently reported case, 51 despite marked mucocutaneous pigmentation, advanced spondyloarthropathy, unilateral hip replacement, and blackened urine on standing, the diagnosis was not established until the patient was 82 years of age.…”

Section: Discussionmentioning

confidence: 99%

Alkaptonuric Ochronosis with Aortic Valve and Joint Replacements and Femoral Fracture: A Case Report and Literature Review

Fisher¹,

Davis²

2004

Clinical Medicine & Research

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Alkaptonuria is a rare autosomal recessive disorder of metabolism caused by deficiency of homogentisic acid oxidase and resulting in accumulation of homogentisic acid in collagenous structures. It is characterized by homogentisic aciduria, bluish-black discoloration of connective tissues (ochronosis) and arthropathy of large joints. Less common manifestations include cardiovascular abnormalities, renal, urethral and prostate calculi. Bone fractures are unusual in ochronosis.In this report, we describe a woman, 69 years of age, with a history of dark urine since childhood and progressive pigmentation of the skin, sclera, and auricular cartilages. She had severe arthropathy requiring total joint replacement in both of her knees and right hip. She also had severe aortic stenosis requiring valve replacement, and asymptomatic nephrolithiasis. She presented with a low trauma fracture of the distal femur despite two years of alendroate therapy.We review the etiology, pathogenesis, clinical presentation, diagnosis and treatment of alkaptonuric ochronosis. Early detection is important for prevention and treatment of multiple systems. Nitisinone, a potent inhibitor of 4-hydroxyphenylpyruvate dioxygenase, dramatically reduces production and urinary excretion of homogentisic acid; however, the long-term efficacy and side effects of such therapy are unknown. Identifying the gene for alkaptonuria offers the potential for a new therapeutic approach (replacement therapy with a recombinant enzyme) in the treatment of alkaptonuric ochronosis.

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