Pigmented Conjunctival Lesions as Initial Manifestation of Ochronosis

Barrios, Patricia Chévez; Font, Ramon L.

doi:10.1001/archopht.122.7.1060

Cited by 18 publications

(18 citation statements)

References 14 publications

(16 reference statements)

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“…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]. Dilatated conjunctival vessels can be present and seemingly supply the pigmented areas [25,70,76,85,87,88].…”

Section: Resultsmentioning

confidence: 99%

“…Findings on the ocular surface are usually symptomless. “Sicca”-symptoms or foreign body sensation have only been reported twice in literature [31,89]. …”

Section: Resultsmentioning

confidence: 99%

“…We found six detailed histopathologic descriptions of the whole bulbus [28,29,73-75,81] and four descriptions of ocular biopsies [27,82,88,89]. Ochronotic pigment is usually referred to as melanin-like which is true for the non-tinged tissue where it has a brown to olive, non-birefringent appearance.…”

Section: Resultsmentioning

confidence: 99%

“…Ochronotic pigment is usually referred to as melanin-like which is true for the non-tinged tissue where it has a brown to olive, non-birefringent appearance. Histochemically, it rather behaves like elastin as being positively stained by van Gieson or Movat-pentachrome but not by Fontana [29,73,75,81,89]. In hematoxilin-eosin it is seen as light wine-red to eosinophilic but still with a pale olive appearance [81,88] (Figure 3, with permission [88]).…”

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%

“…Findings on the ocular surface are usually symptomless. “Sicca”-symptoms or foreign body sensation have only been reported twice in literature [31,89]. …”

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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“…The pigmentation does not affect vision. 12 Ear cartilage pigmentation is first seen in the concha and antihelix and later in the tragus. The cartilage is slate blue or gray and feels irregular or thickened.…”

Section: In 1958mentioning

confidence: 99%

Alkaptonuric ochronosis: a clinical study from Ardabil, Iran

2014

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Association of alkaptonuria and low dose nitisinone therapy with cataract formation in a large cohort of patients

et al. 2022

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Homogentisic acid (HGA) lowering, disease modifying off-label nitisinone therapy has been used in the United Kingdom National Alkaptonuria Centre (NAC) since 2012. This study evaluated the serendipitous observation of cataract in a large cohort of patients with the very rare disease alkaptonuria (AKU), over a 5-year period.Patients with AKU who attended the NAC since 2012. Standard physical examination and ocular assessment, including photographs of the crystalline lens were taken before commencement of nitisinone 2 mg daily and annually over 5 years. Photographs were randomised and graded by two independent observers using the WHO cataract classification. AKU patients who did not receive nitisinone were included as a control group. HGA was measured on acidified 24 h urine (u-HGA 24 ) and HGA and tyrosine in fasting acidified serum samples (sHGA, sTYR) at each visit.Patients without suitable lens images were excluded. Cataract (mean grade 1) was noted at baseline in 47 out of 62 (76%) with a mean (SD) age of 44 ( 14) years. In nitisinone-treated patients, there were significant increases in the mean grade of nuclear (0.18, p < 0.01) and cortical (0.38, p < 0.01) lens opacities over the mean duration of 4.93 years of the study. Worsening of the nuclear cataract and cortical lens opacities by at least 1 grade was noted in 14 out of 46 (30%) and 11 out of 46 (24%) patients, respectively. There is an increased prevalence and progression of cataract in AKU and a possible association of nitisinone with cataract progression.

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Pigmented Conjunctival Lesions as Initial Manifestation of Ochronosis

Cited by 18 publications

References 14 publications

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

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

Alkaptonuric ochronosis: a clinical study from Ardabil, Iran

Association of alkaptonuria and low dose nitisinone therapy with cataract formation in a large cohort of patients

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