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To report a case of a 9-year-old child with neurofibromatosis type 1 (NF1) and Jalili syndrome, the latter denoting a rare combination of cone-rod dystrophy and amelogenesis imperfecta.Detailed ophthalmological and electrophysiological examinations were carried out and blood samples were taken from the patient and her father for molecular genetic analysis by direct DNA sequencing of the NF1 and the ancient conserved domain protein 4 (CNNM4) gene.The diagnosis of neurofibromatosis type 1 (NF1) could be confirmed clinically and genetically. Furthermore, cone-rod dystrophy and amelogenesis imperfecta could be observed as typical features of a rare condition, acknowledged as Jalili syndrome. The diagnosis was assured on the basis of clinical examinations and molecular genetic analysis of the CNNM4 gene, which was previously shown to cause Jalili syndrome.Our case shows a unique combination of NF1 and Jalili syndrome. The random association of two diseases is unusual and deserves attention. This case highlights the importance not only of detailed clinical examination, but also of molecular genetic analysis, which together provide a precise diagnosis.

In anterior ischemic optic neuropathy (AION), it is important not to miss the diagnosis of giant cell arteritis (GCA) because this requires immediate steroid treatment to prevent involvement of the second eye and possible blindness. A missed diagnosis also might lead to fatal systemic complications.Observational case report.A 79-year-old woman noticed decreased visual and visual field loss in the right eye. At presentation, right visual acuity was 10/20 (ETDRS chart 2000). There was a right relative afferent pupillary defect of 0.6 log units. Asked for symptoms of GCA she complained about temporal and occipital headache, jaw claudication combined with malaise, and myalgia of the upper limbs. Laboratory tests showed normal inflammatory markers. Repeated tests confirmed ESR and CRP to be within the normal range. GCA being suspected, ultrasound of the superficial temporal arteries and temporal artery biopsy were performed unilaterally on the right side. Histology showed a chronic inflammatory cell infiltrate consistent with active GCA. The patient was treated with high-dose corticosteroids (250 mg methylprednisolone, three times/day, initially) and symptoms rapidly resolved, but visual loss remained unchanged.The case presented here proves that GCA with typical related visual loss (AION) is possible even when both ESR and CRP are in the normal range. Therefore, in the presence of typical symptoms, the clinician must not rely solely on laboratory testing, but start steroid therapy immediately and order a temporal artery biopsy.

BACKGROUND The objective of recent animal experimental studies is to substitute destroyed or degenerated retina and to improve visual function by transplanting retinal components. Mature or immature retinal components were transplanted into the subretinal space of different animal species. METHODS Embryonic and non-embryonic retina components of different animals or of humans are used as grafts. They are transplanted to adult host animals. There is the possibility of utilizing a posterior transscleral approach or a vitreoretinal approach. The latter offers a better visual control. Transplantation of retinal pigment epithelium could rescue photoreceptors in adult rats with inherited or age-related macular degeneration. RESULTS After the transplantation it was possible to measure significantly higher visual evoked potentials in the transplanted eye than in the untreated fellow eye. Additionally, an almost normal pupillary reflex was identified. As it is not possible to adequately determine visual acuity in rodents, it is necessary to examine, as to whether visual improvement is also evident in primates. CONCLUSION The eye is an immunologically privileged location for transplants because of retinal autoantigenic specific immunosuppression that protects the transplant from immunologic rejection. Many questions regarding operation technique, gaining of transplantation tissue and immunoreaction are to be answered before the use is possible on humans. The counseling of the patients and the informational policies towards the media should be correspondingly retentive.