This document presents a case report of a 63-year-old male with non-nephropathic cystinosis who presented with longstanding photophobia, glare, and foreign body sensation in his eyes. On examination, punctate needle-shaped crystals were diffusely present throughout the cornea. Diagnosis was confirmed by an elevated level of serum cystine. The document also provides background on cystinosis as a rare metabolic disorder characterized by intracellular cystine accumulation. Corneal crystal deposition is a pathognomonic manifestation and advances with age, initially causing asymptomatic crystals and later photophobia, punctate keratopathy, and blurred vision. Treatment involves cysteamine therapy to reduce cystine levels.

1. Ocular Manifestations of cystinosis
Case Report and Review of
Literature
DR. MAYUR KULKARNI
DR. H. T. KARAD ; DR. T. R. GITTE ; DR. SUJATA AGRAWAL;
DR. AZEEM MASHAYAK

2. ABSTRACT
Cystinosis is a rare autosomal recessive metabolic disorder characterized by the
intracellular accumulation of disulfide of the amino acid cysteine, in many organs and
tissues. Infantile nephropathic cystinosis is the most severe phenotype. Although renal
disease is the most prominent feature of the cystinosis, corneal cystine crystal
formation remains a major complication, leading to photophobia, corneal erosions,
and keratopathies . Corneal crystal accumulation and pigmentary retinopathy were
originally the most commonly described ophthalmic manifestations, but successful
kidney transplantation significantly changed the natural history of the disease.
Moreover, the extent of corneal crystal accumulation reflects the course and severity
of the disease itself, and the cornea is accessible to direct examination . As cystinosis
patients now live longer, long-term complications in extra-renal tissues, including the
eye, have become apparent. A case of an adult patient with non-nephropathic
cystinosis is reported. He presented with corneal complications of cystinosis.

3. CASE REPORT
Here is a case of 63 old male who came to our OPD , Ophthalmology department,
YCRH MIMSR medical college, latur; with complaints of redness , irritation and
watering from left eye since two days which was sudden in onset . He complained of
longstanding photophobia glare and foreign body sensation in his eyes. Past
ophthalmic history included recurrent episodes of same complains five to six times in
previous 10 years. On ocular examination best corrected visual acuity was 6/18 in the
both eyes. Slit-lamp examination revealed normal lids , conjunctival congestion in left
eye, crystal depositions in both eyes throughout the cornea including endothelium.
Both irides were normal. Lens showed grade 1 NS. Funduscopic examination of the
both eyes revealed few details because of hazy cornea.

4. DISCUSSION
Crystal accumulation in the conjunctiva and cornea is the pathognomonic ophthalmic
manifestation of cystinosis. This was initially described by Bürki in 1941, and has been
observed in all subsequently reported cases. Corneal crystals present as myriad
needle-shaped, highly reflectile opacities easily seen by slit lamp examination. They
appear to be present in the corneal epithelium, stroma and endothelium. Due to their
characteristic appearance and distribution they are easily, with few exceptions
differentiated from other crystalline keratopathies. Accumulation of crystals in the
cornea starts in infancy and is definitely evident by 16 months of age. Deposition
begins in the anterior periphery and proceeds posteriorly and centripetally. By
approximately 7 years of age, the entire peripheral stroma and endothelium
accumulates crystals. By approximately 20 years of age, crystals can be seen in the
entire corneal stroma. Crystal deposition advances more rapidly in the periphery.

5. Increased density of cystine crystals results in a hazy cornea that is easily recognizable
with the naked eye in older, untreated cystinosis patients. Corneal crystals are initially
asymptomatic, but photophobia can develop within the first few years of life. The
severity of photophobia varies in ambient light but nearly all patients have some
degree of discomfort with bright illumination after the first decade of life. Many
patients require dark glasses in bright illumination and some have significant
blepharospasm. Superficial punctate keratopathy with associated foreign body
sensation and pain is occasionally seen, mostly in patients older than 10 years of age.
Katz et al documented loss of contrast sensitivity, increased glare disability, decreased
corneal sensitivity and increased corneal thickness in patients with nephropathic
cystinosis; he speculated that these changes are the result of cornea crystal
deposition. Corneal crystals do not affect the visual acuity, so decreased visual acuity
should prompt an investigation of other causes.

7. OPTICAL CUT SECTION OF CORNEA

8. ANTERIOR SEGMENT OCT

9. CONCLUSION
We report a case of non-nephropathic cystinosis in a male of 63 years
old with no any other complications of cystinosis. He presented with
long lasting photophobia , glare , foreign body sensation and redness of
left eye. On examination he showed punctate, needle-shaped crystals
diffusely present throughout the cornea . Diagnosis is confirmed on
laboratory testing with an elevated level of serum leukocyte cystine of
2.74 nmol half-cystine/mg protein (Normal range of serum leukocyte
cystine for non-nephropathic cystinosis is 1 to 3 nmol half-cystine/mg
protein)

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