Autoimmune polyendocrine syndrome type 1 (APS-1), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare monogenic autosomal recessive autoimmune disease. It is caused by mutations in the autoimmune regulator (AIRE) gene. APS-1 is diagnosed clinically by the presence of two of the three major components: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and primary adrenocortical insufficiency. A 3.3-year-old girl was presented with a carpopedal spasm to the pediatric emergency clinic. She had a history of recurrent keratitis, and chronic candidiasis as urinary tract infections and oral thrashes. Hypoparathyroidism (HPT) was diagnosed based on low serum concentrations of calcium and parathyroid hormone and elevated serum concentrations of phosphate, and treatment with calcium and calcitriol supplementation was started. Genetic testing revealed homozygosity for nonsense c.769C>T (p.R257X) mutation in exon 6 in the AIRE gene which was reported previously. At the age of 5.6 years, she was presented with an adrenal crisis, and treatment with hydrocortisone and fludrocortisone was started. The reported case highlights that unexplained chronic keratitis in children may be the first and most severe component of this syndrome. The classic triad of APS-1 may also appear in the first decade of life.

Use of crack cocaine and associated medical complications persists globally. Some reports in medical literature describe a sight-threatening condition commonly referred to as \'crack eye\' or \'crack eye syndrome\'. The purpose of this review is to describe what is known about crack eye from case reports in peer-reviewed literature.
A structured search was completed in MEDLINE, TOXLINE, EMBASE, PsychInfo, Scopus and Biomed Central, to collect case reports and case series on corneal complications attributed to crack cocaine smoking.
Of 111 articles screened, 11 contained case reports or series. Thirty individual cases of \'crack eye\' were reported. The majority (63%) of cases had bilateral involvement; 83% of all cases with microbial culture results had corneal infections. Aggressive treatment caused an improvement in 95% of all cases and 23% of all cases were lost to follow up. Of those who received treatment for corneal complications associated with crack cocaine, 22% remained with significant visual impairment (hand motions only) in the affected eye.
Clinicians should consider crack cocaine involvement in patients presenting with corneal disease without known predisposing factors, and elicit comprehensive drug histories to prevent a reduction in visual acuity.
Corneal complications of crack cocaine smoking are caused by a number of synergistic factors, including direct toxicity of crack cocaine vapours to surface cells, impairment of neurogenic support to corneal epithelial integrity, desiccation of the eye surface due to diminished blinking reflex, low level chemical burns and mechanical denudement of surface cells through eye rubbing.

Congenital aniridia is a rare genetic eye disorder with total or partial absence of the iris from birth. In most cases the genetic origin of aniridia is a mutation in the PAX6 gene, leading to involvement of most eye structures. Hypoplasia of the fovea is usually present and is associated with reduced visual acuity and nystagmus. Aniridia-associated keratopathy, glaucoma, and cataract are serious and progressive complications that can further reduce visual function. Treatment of the ocular complications of aniridia is challenging and has a high risk of side effects. New approaches such as stem cell therapy may, however, offer better prognoses. We describe the various ocular manifestations of aniridia, with a special focus on conditions that commonly require treatment. We also review the growing literature reporting systemic manifestations of the disease.

Nitisinone, although unapproved for use in alkaptonuria (AKU), is currently the only homogentisic acid lowering therapy with a potential to modify disease progression in AKU. Therefore, safe use of nitisinone off-label requires identifying and managing tyrosine keratopathy. A 22-year-old male with AKU commenced 2 mg daily nitisinone after full assessment. He was issued an alert card explaining potential ocular symptoms such as red eye, tearing, ocular pain and visual impairment and how to manage them. On his first and second annual follow-up visits to the National Alkaptonuria Centre (NAC), there was no corneal keratopathy on slit lamp examination. On his third follow-up annual visit to the NAC, he was found to have typical dendritiform corneal keratopathy in both eyes which was asymptomatic. Nitisinone was suspended until a repeat slit lamp examination, 2 weeks later, confirmed that the keratopathy had resolved. He recommenced nitisinone 2 mg daily with a stricter low protein diet. On his fourth annual follow-up visit to the NAC, a routine slit lamp examination showed mild corneal keratopathy in the left eye. This is despite him reporting no ocular symptoms. This case highlights the fact that corneal keratopathy can occur without symptoms and any monitoring plan with off-label use of nitisinone in AKU will need to take this possibility into account. This is also the first time that typical corneal keratopathy has been described with the use of low dose nitisinone in AKU without symptoms.

The cornea may be considered \'the window to the body\', with numerous systemic diseases exhibiting corneal manifestations. Indeed, the cornea is often the presenting sign of such diseases. This article provides a concise review and photographic guide to a range of types of corneal deposition that may be observed secondary to systemic disease.

OBJECTIVE: To report a rare case of bilateral sporadic aniridia in an African child and review the management modalities.
METHODS: We report a case of bilateral sporadic aniridia with horizontal nystagmus, axial cataract optic disc, and fovea hypoplasia in a 5-year-old female patient. She was managed conservatively. Various modalities of treatment are reviewed.