Corneal pathology and outcome of keratoplasty in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).

BACKGROUND: Disabling, chronic, persistent keratoconjunctivitis is an essential ocular manifestation in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). PURPOSE: Because of the paucity of previous studies our aim is to describe the main histopathological features of the keratopathy and to report the long-term outcome of corneal grafting. MATERIAL: Four corneal buttons obtained at keratoplasties. Two patients with clinical follow-up data of 30 years. RESULTS: The corneal epithelium showed a severe atrophy with even areas of incipient epidermalization. The Bowman's membrane was destroyed. The anterior corneal stroma was replaced by vascularized scar tissue with areas of chronic inflammatory cell infiltration consisting mainly of lymphocytes and plasma cells. The posterior corneal stroma, the Descemet's membrane and the endothelium were normal. Rejection occurred after each keratoplasty. The last visual acuity of the first patient was finger counting of the right eye and 0.3 of the left eye and of the second patient 0.08 of both eyes. CONCLUSION: In chronic keratopathy of APECED the anterior corneal layers, the epithelium, the Bowman's membrane and the anterior corneal stroma are affected while the posterior cornea appears normal. As after keratoplasty rejection may be expected, its prevention and management need intensive attention.

Chronic bilateral keratitis in autoimmune polyendocrinopathy-candidiadis-ectodermal dystrophy (APECED). A long-term follow-up and visual prognosis.

PURPOSE: To report the outcome of chronic bilateral keratitis and other ocular manifestations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). MATERIAL AND METHODS: The material consists of 69 patients with APECED, who were examined by the senior author as referrals from the pediatricians. The patients were seen at the Helsinki University Eye Hospital a total of 370 times and the follow-up periods range from 2 to 25 years. RESULTS: 25% of the patients had chronic bilateral keratitis with symptoms of intense photophobia, blepharospasm and lacrimation. On 13 patients the first symptoms appeared before the age of 4 years. Keratitis was the first presenting sign before any evidence of systemic disease in three patients, and in all patients keratitis was among the first three manifestations of the syndrome. The clinical picture from the acute to the chronic cicatricial stage is described. The best corrected visual acuity at the end of the follow-up was 0.6 or better in six patients only. Of the total material 12 patients had lenticular opacities as the manifestation of hypoparathyroidism. CONCLUSIONS: Chronic bilateral keratitis is an ocular manifestation of APECED and in its etiology both hypoparathyroidism and candidiasis may be ruled out as single causes. When an ophthalmologist is confronted with a young child with bilateral chronic keratitis with symptoms of intense photophobia, blepharospasm, lacrimation and either with mucocutaneous candidiasis or hypoparathyroidism, the patient should be referred to a pediatric endocrinological consultation for the possibility of underlying APECED.

Congenital intraocular teratoma.

PURPOSE: The clinical and histopathologic findings of an intraocularly located congenital teratoma are reported. METHODS: In addition to routine histologic stainings, the tissue types present and the fate of the neuroectodermal elements of the disorganized eye were analyzed by immunohistochemistry. RESULTS: An otherwise healthy baby girl was born with a large greenish mass replacing the left eye without invading the orbit. The enucleated eye showed a firm polycystic intraocular tumor filling the intraocular space. Normal sclera and a massively distended cornea enclosed the globe. Fairly normal choroid and a disorganized ciliary muscle were present, but the ciliary body and iris had not formed. The tumor was surrounded by maldeveloped remnants of the optic vesicle and consisted of derivatives of all three germinal layers such as adnexal glands, brain, choroid plexi, intestinal and respiratory epithelium, cartilage, adipose tissue, as well as smooth and skeletal muscle. DISCUSSION: The clinical history with presentation at birth, female sex of the patient, and both macroscopic and microscopic findings are typical of a benign orbital teratoma, but the intraocular location is unique. Lack of truly medulloepitheliomatous elements in this case and the absence of derivatives from three germinal layers in all previously reported teratoid medulloepitheliomas of the ciliary body exclude the latter diagnosis. The teratoma may have arisen in the orbit with subsequent entrapment within the developing eye when the embryonic fissure closed.

Suprasellar meningioma 47 years after bilateral retinoblastoma.

Development of an additional primary tumour, a suprasellar meningioma, is reported 47 years after successful treatment of bilateral retinoblastoma. The left eye of the patient was enucleated at the age of 1.5 years and the left orbit radiated with a total dose of 1200 rads. The right eye was treated by orthovoltage radiation only at the age of 4 years, the total dose being 5100 rads. The right eye became blind and phthisical, and it was enucleated at the age of 42 years. No active retinoblastoma was found. At the age of 48 years a large suprasellar meningioma was diagnosed and partially removed.

Continuous insulin infusion therapy and retinopathy in patients with type I diabetes.

The effect of continuous subcutaneous insulin infusion (CSII) and conventional injection therapy (CIT) on retinopathy was evaluated in a 1-year crossover study (6 + 6 months) with 54 type I diabetic patients. The glycaemic control improved significantly but did not reach euglycaemic levels during CSII (P less than 0.01-0.001), whereas no change was observed during CIT. At baseline, 50% of the patients had no retinopathy, 20% had only minimal changes, 26% had moderate background retinopathy, and 2 patients had proliferative changes. During CSII, the retinopathy grade impaired in 7 patients, whereas no deterioration occurred during CIT. Improvement of retinopathy grading was observed in 2 patients during CSII and in 5 during CIT, respectively. Individual retinal lesions also progressed more and improved less during CSII (12:3) as compared with CIT (10:9). The net impairment in both retinopathy grading and individual lesions was significant during CSII as compared with CIT (P less than 0.05). There was no difference in the baseline characteristics (severity of retinopathy, age, sex, duration of diabetes, insulin dose, blood pressure, serum creatinine), in the fall of glycosylated haemoglobin or number of hypoglycaemic episodes between the patients with and without worsening of retinopathy during CSII. The present study suggests that even a moderate improvement in metabolic control induced by CSII may be associated with a risk of progression of retinopathy during the first months of therapy.

Exfoliation syndrome in enucleated haemorrhagic and absolute glaucoma.

Occurrence of exfoliation syndrome was studied in 172 eyes enucleated for haemorrhagic and absolute glaucoma in 1962-82, using histopathological techniques. Exfoliation was found in 33% of haemorrhagic glaucoma cases and in 22% of absolute glaucoma. In patients over 70, exfoliation was found in 53% of the haemorrhagic cases and in 46% of the absolute glaucoma cases. Capsular glaucoma may provoke haemorrhagic glaucoma and may lead to blindness and enucleation of eye with or without vascular catastrophe.

Posterior chamber lens implantation. A clinicopathological report of a successful case.

This report describes the clinical and histopathological studies of an eye 13 months after successful extracapsular cataract surgery and J-loop-type posterior chamber lens implantation. The lens was of PMMA while the loops were made of polypropylene. The corrected visual acuity of the patient was 1.0 and clinically the eye showed no evidence of anterior uveitis. The lower loop was in the capsular bag while the upper loop was embedded in the ciliary body surrounded by chronic foreign body giant-cell inflammatory reaction.

Orbital granulocytic sarcoma as a presenting sign in acute myelogenous leukemia.

A 3-year-old boy presented with a marked right exophthalmos of a few days duration. This was due to a retrobulbar granulocytic sarcoma that was subtotally removed at a lateral orbitotomy. Subsequent studies revealed acute myelogenous leukemia (AML) of FAB-type M2. The orbital tumor disappeared totally after local irradiation and cytostatic treatment. Another granulocytic sarcoma developed 3 months later in the left orbit. It disappeared also during repeated cytostatic induction therapy although only transient hematologic remission was achieved. After 1 month a recurrence of the tumor in the left orbit was noted. The disease progressed without response to treatment and the patient died 11 months after diagnosis.

Fine-needle aspiration biopsy in the diagnosis of orbital tumours.

Fine-needle aspiration biopsy was used for the diagnosis of 25 consecutive patients with orbital tumours. CT scan was used to locate the lesion accurately. In two cases of orbital sarcoma and three out of four cases of orbital meningeoma, pre-operative fine-needle biopsy provided the correct diagnosis for proper operative treatment. Post-operative histopathological examination of the tumours proved that the cytological diagnoses had been correct. Two cases were diagnosed as metastatic carcinomas, 4 as malignant lymphomas and 11 as chronic inflammatory lesions. Orbitotomies were performed in 3 cases only, and the cases were managed accordingly with radiation, chemotherapy or corticosteroids. With conservative treatment the results varied from arrest of the condition to total disappearance of the lesion. No complications were encountered as a result of orbital fine-needle biopsies. The procedure is simple, requiring only topical anaesthesia and if proper cytological service is available, invaluable diagnostic information is provided for proper clinical management. It can also be used if recurrence of orbital tumour is suspected and a new mass is seen by CT scan. The method may save the patient from unnecessary exploratory orbital surgery.

Mediastinal embryonal carcinoma with bilateral choroidal metastases. Fluorescein angiographic and histopathologic study.

28-year-old sportsman developed chest pain, dyspnoea, haemoptysis and swelling of the right leg. 8 weeks later he also complained of blurred vision. Ophthalmoscopy revealed subretinal infiltrates diagnosed as tumour metastases by fluorescein angiography. The patient died 10 weeks after the first symptoms. At autopsy large mediastinal embryonal carcinoma was diagnosed, and both eyes revealed choroidal metastases. This rare tumour usually involves young men and is invariably fatal within a few months. Exceptional bilateral choroidal metastases constituted the presenting sign.

Ocular pathology in infantile type of neuronal ceroid-lipofuscinosis.

Ocular pathology of the infantile type of ceroid-lipofuscinosis is reported. The material comprised 10 eyes of five autopsies in which the diagnosis had been confirmed by neuropathological autopsy. The condition is clinically characterized by its age of onset from eight to 18 months, rapid psychomotor retardation, ataxia, and muscular hypotony. The patients become blind by the age of two years with optic atrophy and retinal hypopigmentation as the main ophthalmoscopic features. In the retina a complete disappearance of the visual cells, the bipolar cells and the ganglion cells was observed with marked reactive gliosis. Loss of pigment from the retinal pigment epithelium had taken place. The optic nerve showed atrophy and gliosis with complete loss of myelin sheaths. Granular deposits stainable with PAS, and Sudan black B stains were observed in the nonpigmented ciliary epithelium of the pars plana, the pigment epithelium as well as the glial cells of the optic nerve. Granular deposits were also noted in the cytoplasm of large pigmentladen macrophages in the retina. Electronmicroscopy revealed osmiophilic granular deposits in the cytoplasm of many retinal glial cells.

Causes of enucleation following cataract surgery.

Between the years 1962 and 1976 85 eyes which had undergone cataract surgery were accessioned to the Ophthalmic Pathology Laboratory of the Helsinki University Eye Hospital. The specimens were submitted from the various eye departments of the country. Of these 8k eyes nine had been enucleated within 2 months after surgery while in 64 cases the enucleation had been performed more than 12 months after surgery. 40 eyes had had an attempted operation for senile cataract, 30 eyes for traumatic cataract while the remaining cases were congenital cataract cases or cataracts in pre-existing glaucomatous or chronic uveitis eyes. Most frequent causes for the loss of the eyes were related to incomplete or abnormal healing of the operative wound such as epithelial down-growth and closure of the chamber angle with extensive anterior synechiae leading to absolute glaucoma. It is noteworthy that all cases of epithelial downgrowth were derived from the beginning of the observation period. No new cases were obtained after 1969. Other important causes were purulent endophthalmitis and retinal detachment. Haemosiderosis was a prominent cause in the group with traumatic cataract. A careful histopathological analysis of eyes enucleated after cataract surgery is mandatory as it is from the complications we learn most in cataract surgery.