Congenital stromal corneal dystrophy in a Spanish family: Clinical, genetic and histological analysis.

PURPOSE: To present the clinical, genetic, and histopathological features of the ninth family affected by congenital stromal corneal dystrophy (CSCD) to date. METHODS: Twelve cases of a Spanish family affected by CSCD were analyzed regarding history, visual acuity (VA, decimal scale), an ophthalmologic exam and specular microscopy. Five eyes were treated by deep anterior lamellar keratoplasty (DALK), and thirteen eyes by penetrating keratoplasty (PK). In the two last generations, a genetic study was performed. RESULTS: Most of the patients affected were born with opaque corneas except for three, whose corneas were clear at birth. Biomicroscopy showed a whitish diffuse stromal opacity with an unaltered epithelium, causing poor VA (from hand motions to 0.4). Patients treated with PK presented mean postoperative VA of 0.19±0.20 over a follow-up time of 235.3±101.4months with 38% recurrences. Patients who underwent DALK experienced VA improvement to 0.17±0.11 over a follow-up time of 10.8±2.6months without signs of recurrence. In the latter, the big bubble technique was not achieved, so a manual technique was performed. The genetic study showed heterozygosis for a 1-bp deletion at nucleotide 962 in exon 8 of the decorin gene. CONCLUSIONS: CSCD is a rare entity, which should be treated by DALK whenever possible, obtaining better results than PK. Close monitoring of children of affected individuals is important, because CSCD can progress during the early years of life.

Intercritical photophobia in the migrainous patient. Proposal for diagnostic criteria.

INTRODUCTION: Photophobia is a symptom of abnormal light intolerance without pain sensation that requires an anamnesis and an examination to diagnose an underlying etiology. BASIC PROCEDURE: This article focuses on 30 clinical cases with isolated intense photophobia and on the review of the literature. OBJECTIVE: The purpose of this article is to establish diagnostic criteria for photophobia. RESULTS: The etiology of photophobia appears to be at the level of the intrinsically photosensitive retinal ganglion cells known as melanopsin cells and at a neurochemical level mediated by calcitonin-related peptide and the pituitary activating peptide cyclase. CONCLUSION: The treatment of photophobia could consist of monoclonal antibodies against calcitonin-related peptide and/or pituitary activating peptide cyclase.

Optic neuropathy by ethambutol in a patient with multiple sclerosis.

We present the clinical case of a patient who developed a toxic optic neuropathy due to ethambutol in the context of a tuberculosis reactivation and who also had a personal history of multiple sclerosis. The objective is to highlight the importance of making a good differential diagnosis of this adverse effect and of knowing its main clinical, campimetric and tomographic manifestations and characteristics. Furthermore, since the reversibility of damage is still discussed in the literature, early diagnosis is essential. For this purpose, it is important to inform the patient of the possible symptoms and to carry out an ophthalmological examination and colour tests before starting treatment to assess whether there is progression.

Optic neuropathy by ethambutol in a patient with multiple sclerosis. / Neuropatía óptica por etambutol en paciente con esclerosis múltiple.

We present the clinical case of a patient who developed a toxic optic neuropathy due to ethambutol in the context of a tuberculosis reactivation and who also had a personal history of multiple sclerosis. The objective is to highlight the importance of making a good differential diagnosis of this adverse effect and of knowing its main clinical, campimetric and tomographic manifestations and characteristics. Furthermore, since the reversibility of damage is still discussed in the literature, early diagnosis is essential. For this purpose, it is important to inform the patient of the possible symptoms and to carry out an ophthalmological examination and colour tests before starting treatment to assess whether there is progression.

Intercritical photophobia in the migraineous patient. Proposal for diagnostic criteria. / Fotofobia intercrítica en el paciente migrañoso. Propuesta de criterios diagnósticos.

INTRODUCTION: Photophobia is a symptom of abnormal light intolerance without pain sensation that requires an anamnesis and an examination to diagnose an underlying etiology. BASIC PROCEDURE: This article focuses on 30 clinical cases with isolated intense photophobia and on the review of the literature. OBJECTIVE: The purpose of this article is to establish diagnostic criteria for photophobia. RESULTS: The etiology of photophobia appears to be at the level of the intrinsically photosensitive retinal ganglion cells known as melanopsin cells and at a neurochemical level mediated by calcitonin-related peptide and the pituitary activating peptide cyclase. CONCLUSION: The treatment of photophobia could consist of monoclonal antibodies against calcitonin-related peptide and/or pituitary activating peptide cyclase.