Ocular inflammatory diseases in children with familial Mediterranean fever: a true association or a coincidence?

International Ophthalmology - To describe the characteristics of patients with familial Mediterranean fever (FMF) with concurrent ocular inflammatory disease (OID) and to analyze possible relations...     

Full-thickness macular hole formation associated with pigment epithelial detachment: link or coincidence?

To report two cases of full-thickness macular hole (FTMH) formation associated with pigment epithelial detachment (PED). Two patients presenting with visual loss and metamorphopsia were evaluated with fundal fluorescein angiography (FFA) and optical coherence tomography (OCT). Case 1: Fundus examination and FFA revealed a small subfoveal PED. Subsequent serial OCT elucidated the progressive formation of a FTMH. Case 2: Fundus examination and FFA revealed a small PED and changes suggestive of central serous retinopathy (CSR). Subsequent OCT illustrated a FTMH with an underlying small PED at the base of the hole. It is possible that, in at least some cases of macular hole formation, there may be a causative link with PED. To my knowledge, this is the first report of full-thickness macular hole formation associated with pigment epithelial detachment.     

Ocular features of choroidal osteoma in a patient with 23-year period observation—A case report

A 59-year-old Chinese female had been diagnosed with choroidal osteoma of the right eye when she was 36. At that time, the best corrected visual acuity was 6/6 but this decreased to 6/12 due to the rapid growth of choroidal osteoma within 10 months. She returned to our clinic 23 years later due to gradual decreased vision (2/60). Ocular examination disclosed spontaneous decalcification of the tumor leaving an area of depigmentation and atrophy of choriocapillaris in the previous osteoma. Time-domain optical coherence tomography showed marked thinning and absence of the inner segment/outer segment photoreceptor junction with irregular elevated retinal pigment epithelium. To sum up, choroidal osteoma is a benign intraocular tumor that can cause visual acuity loss due to retinal pigment epithelium atrophy and photoreceptor degeneration over the years.     

Incidental neuroblastoma with bilateral retinoblastoma: what are the chances?

A child with bilateral familial retinoblastoma underwent staging MRI brain and orbit which identified subtle leptomeningeal enhancement, thus prompting an MRI whole body, which revealed a retroperitoneal mass, confirmed on laparoscopic biopsy to be neuroblastoma. This is the first reported case of these two rare embryonal non-central nervous system tumors occurring concurrently. The cause of this concurrence is unknown despite their pathogenic similarities with a chance of 4 cases per 10 billion children aged 1–4 years. Incidental neuroblastomas in infants can regress spontaneously but this child underwent systemic chemotherapy for his retinoblastoma that may have caused regression of the neuroblastoma.     

Polypoidal choroidal vasculopathy and neovascular age-related macular degeneration: Same or different disease?

Neovascular age-related macular degeneration (nAMD) is the commonest cause of severe visual impairment in older adults in Caucasian white populations. Polypoidal choroidal vasculopathy (PCV) has been described as a separate clinical entity differing from nAMD and other macular diseases associated with subretinal neovascularization. It remains controversial as to whether or not PCV represents a sub-type of nAMD. This article summarizes the current literature on the clinical, pathophysiological and epidemiological features and treatment responses of PCV and compares this condition to nAMD. Patients with PCV are younger and more likely Asians, and eyes with PCV lack drusen, often present with serosanguinous maculopathy or hemorrhagic pigment epithelial detachment, and have differing responses to photodynamic therapy and anti-vascular endothelial growth factor (VEGF) agents. There are also significant differences in angiographic and optical coherence tomography features between PCV and nAMD. Histopathological studies suggest differences in the anatomical details of the associated vascular abnormalities in the retina and choroids and the relative role of VEGF. There is emerging evidence of common molecular genetic determinants involving complement pathway and common environmental risk factors (e.g. smoking). Such information could further assist clinicians involved in the care of elderly patients with these conditions.     

Idiopathic orbital inflammation with sclerosing mesenteritis: a new association?

A 70-year-old man, who was recently diagnosed with sclerosing mesenteritis following an abdominal biopsy, presented with an acute onset of left upper eyelid swelling, moderate ptosis, mild chemosis and restriction of movements. A computed tomography scan showed an enlarged lateral rectus muscle with surrounding soft tissue changes. A diagnosis of orbital inflammation manifesting as myositis was made and the patient was commenced on high-dose prednisolone, which showed a rapid response. It is believed that this may be a new association similar to that previously reported with retroperitoneal fibrosis and orbital inflammation.     

Keratoconus and Fuchs' heterochromic iridocyclitis: a coincidence or a defect during embryogenesis?

PURPOSE: We aimed to discuss the possible role of developmental embryologic factors in neural crest cells in the aetiology of keratoconus and Fuchs' heterochromic iridocyclitis by presenting this case. CASE REPORT: We diagnosed bilateral keratoconus and unilateral Fuchs' heterochromic iridocyclitis in a 19 year old women complaining of progressively blurring vision in her left eye. We also examined most of her first and second degree relatives. One niece had FHI in addition to a choroidal nevus in the inferior temporal quadrant of her left eye. DISCUSSION: Regarding the common embryological origins of iris stroma, uveal melanocytes and corneal stroma, it might be worth considering that the combination of FHI and keratoconus is not coincidental. A role of embryologic factors in neural crest cells in the etiology of both diseases cannot be excluded.