Papillorenal syndrome (PAPRS; Mendelian Inheritance in Man [MIM] 120330) is an autosomal dominant disease characterised by the presence of congenital renal and optic nerve abnormalities associated with mutations of the gene. In this article, the authors present four patients with PAPRS who are carriers of three new mutations, as well as another patient with a possible non-pathogenic variant of the gene. All patients were given a full neurophthalmological examination, and all patients underwent a genetic test for . Patients 1 and 2 presented with the classic signs of PAPRS: renal disease associated with a congenitally abnormal optic disc, whereas patients 3 and 4 only presented with a congenital optic nerve abnormality and no renal involvement. In patients 1 and 2, the optic nerves were affected by the presence of a central excavation within the optic disc, absence of the central retinal artery, as well as multiple cilioretinal arteries radiating from the periphery of the optic disc. Bilateral optic nerve pits were seen in patient 3, and lastly, in patient 4 there was the presence of superficial gliotic tissue on the left optic disc. All patients presented with a missense mutation in the gene, where in patient 4 possibly being only a non-pathogenic variant of the gene. In conclusion, the authors present two patients with classic clinical signs of PAPRS, having two new mutations, which until now have not been described in the current literature; another patient with a new mutation showing only ocular manifestations of the disease, and lastly, a patient who is a carrier of a variant of the gene has a congenitally abnormal optic disc, which is probably not related to PAPRS.

Cardiac myxomas are benign tumors of endocardial origin that usually occur in the left atrium. Trans-thoracic echocardiography is the diagnostic method of choice, and early surgical removal is the preferred method of treatment. We present a patient whose history of cerebral emboli and central retinal artery occlusion (CRAO) led to a diagnosis of cardiac myxoma. Neuroimaging studies showed multiple infarcts in the region of the left middle and anterior cerebral arteries. Ophthalmic examination showed gross retinal pallor compatible with left central retinal artery occlusion (CRAO). The etiology of stroke was investigated by performing trans-thoracic echocardiography, which showed a mass in the left atrium compatible with cardiac myxoma. Complete removal of the cardiac tumor was performed by open-heart surgery. Fortunately, after a period of rehabilitation, the patient's hemiparesis almost completely resolved, but the loss of vision OS remained unchanged. Many cases of myxoma are accompanied by constitutional symptoms, such as anemia, fever and weight loss, which allow for a diagnosis to made before serious complications such as embolism occur. Unfortunately, in some patients, such as ours, the absence of signs and symptoms allows the myxoma to pass completely unnoticed until the first embolic event occurs.

Idiopathic infantile nystagmus (IIN) is an inherited disease, which can occur through a number of different inheritance patterns (autosomal dominant, recessive, or X-linked). The most common of these is X-linked inheritance with incomplete penetrance and variable expressivity, and can also be dominant or recessive. To date, only two mutations have been described: the first, affecting the FPR143 gene, which is associated with ocular albinism type I, and located on chromosome Xp22, and the second, affecting the FRMD7 gene located on chromosome X26-q27. To date, a causative gene on locus Xp11.3p11.4 has not yet been identified. The most common cause of IIN is due to mutations in the FRMD7 gene, located on chromosome Xq26. We present a case of a new mutation found in three siblings from a family with FRMD7-related infantile nystagmus, whose parents are consanguineously related in the first degree. A complex mutation has occurred in this family, which, to date, has not been previously reported in the scientific literature. The complex mutation consists of the presence of three consecutive 1 bp deletions in exon 12 (c.1248delT; 1299del C; and 1312delT), causing a secondary deletion (c. 1340–2145 + 214del), and resulting in a truncated protein. We also present a 7-year-old patient from a different family, with periodic alternating nystagmus, having no mutation in the FRMD7 gene, which we assume may be an example of non-FRMD7-related IIN. This patient does not have a family history of nystagmus.

CHARGE syndrome is a genetic disorder comprising the following clinical features: coloboma, heart defects, choanal atresia, retardation (of growth and development), as well as genitourinary and ear abnormalities. This syndrome is caused by mutations in the CDH7 gene, located on chromosome 8 (8q12). We present two new gene mutations in two patients with CHARGE syndrome, not previously reported in the scientific literature. Both of these patients clearly demonstrate the difference in the clinical expression of this syndrome, with patient 1 having a greater clinical severity compared to patient 2. We conclude that although in the scientific literature to date there is no clear correlation between a patient's genotype and phenotype expression, we can assume from the cases we present that a correlation does in fact exist. Specifically, missense mutations (as in case of patient 2) are associated with milder clinical expression, whereas mutations which result in truncation of the CDH7 protein (as in the case of patient 1 having a nonsense mutation) may be associated with a more severe clinical expression.