distinct autosomal recessive ocular anomaly in Chaharborj, Islamic Republic of Iran

In Chaharborj, a village in north-eastern of the Islamic Republic of Iran, a high prevalence of congenital blindness [1.1%] has been reported. The clinical findings have not been fully described. We therefore assessed the clinical aspects of this condition in a case series of 20 congenially blind patients and 24 of their parents. All patients had been blind since birth. There was anterior segment dysgenesis and retinal non-attachment in all patients. There were no systemic anomalies. Histopathologically, there was iridocorneal adhesion, normal angle structure and retinal dysplasia. No significant difference was found in the frequency of different HLA class I alleles compared with the general population. The anomaly causing congenital blindness in these patients has components of both anterior and posterior segment dysgenesis. It appears to be a distinct entity with an autosomal recessive pattern of inheritance

Simultaneous pattern visual evoked potential and pattern electroretinogram in strabismic and anisometropic amblyopia

Amblyopia is a relatively common condition in which visual acuity through an eye is subnormal despite no overt pathology. Pattern visual evoked potential [PVEP] can detect any defect from optic nerve to occipital cortex and pattern electroretinogram [PERG] can detect retinal defects specially the ganglion layers. This study was performed to evaluate the cortical and retinal activity in strabismic and anisometropic amblyopia. PVEP and PERG were recorded simultaneously in 40 amblyopes [20 strabismics and 20 anisometropics] and 20 normal control subjects. Normal subjects were age and sex matched with patients. The P100 latency in PVEP was increased in both groups of patients but the P100 amplitude was reduced only in anisometropic group. In PERG, the amplitude of P50 was reduced in all patients with no significant change in latency. Beside reduced PVEP responses in strabismic and anisometropic amblyopia, the activity of retina reduced too. It is likely that retinal impulses can affect the development of visual system

[Assessing the effective dose of warfarin in treatment course of the patients referring to Kashan heart clinic]

The major problem in prescribing the therapeutic dose of warfarin, the most clinically used anticoagulant, is achieving its optimal International Normalized Ratio [INR]. This study was designed to determine the mean dose of warfarin among the patients admitted to Kashan Heart Clinic in 2008. In this cross-sectional study, the medical documents of all patients receiving warfarin in any medical indications were studied for demographic specification, INR results, smoking, other used drugs and the underlying diseases. The warfarin dose attained [INR equal to 2.4-2.6 for 3 consecutive test results] was regarded as the optimal dose. All unqualified cases in terms of INR criteria were excluded. Statistical analysis was done using ANOVA, Pearson, Spearman and t-tests. Seventy one out of 86 patients were included in the study. The mean daily dose of warfarin was 3.97 +/- 1.38 mg. Fourty six, 13, 11 and one patient[s] received warfarin for atrial fibrillation, prosthetic valve, congestive heart failure and embolic cerebrovascular accident, respectively. While warfarin dose had an inverse relation to age [P=0.01], it had no significant relation with sex [P=0.7], underlying diseases [P>0.07], smoking [P=0.2], other used drugs [P=0.07] and the patient weight [P=0.1]. The results showed that warfarin dose was higher among the patients with prosthetic valve [P=0.008]. The obtained effective daily and weekly dose of warfarin i.e. 3.97 +/- 1.38 and 27.83 +/- 9.77 mg, respectively could be used as a therapeutic clue for prescribing the appropriate dose and optimum INR

Comparison of Perkins, Tono-Pen and Schiotz tonometers in paediatric patients under general anaesthesia

This cross-sectional study aimed to investigate if the Tono-Pen, Schiotz and Perkins tonometers could be used interchangeably in general practice for measuring elevated intraocular pressure. A total of 74 eyes of 37 paediatric patients under general anaesthesia were checked with all 3 tonometers. All of the tonometers gave significantly different measurements from each other. However, with a mean difference of 1.4 mmHg and 95% limits of agreement of -5.7 to +8.6, the greatest agreement was between the Perkins and Tono-Pen tonometers. The Perkins tonometer is a hand-held variant of the Goldmann tonometer [the gold standard for intraocular pressure measures]. Therefore the Tono-Pen with its ease of use and safety could be a reliable device for use in general practice

[Long-term complications of enucleated or severely traumatized eyes in war veterans]

To evaluate anophthalmic socket complications and the incidence of sympathetic ophthalmia among individuals who had undergone primary enucleation or severe ocular trauma during the war between Iran and Iraq. All monocular veterans of the mentioned war in Khorasan province, Iran were recalled during a 7-month period. Preliminary data including age at the time of injury, occupation, previous operations and ocular symptoms were evaluated and all participants underwent a complete ophthalmologic examination particularly regarding the anophthalmic socket, orbital implant and prosthesis condition. Overall, 135 male individuals participated in this study. Mean age was 42 +/- 7 years and 86% were 30-50 years. Patients had undergone complete enucleation in 39 [28.9%], partial enucleation in 21 [15.6%] and evisceration in 6 [4.4%] cases. In 34 cases [25.2%] pthisis bulbi had occurred after trauma and the type of surgery was not identifiable in the remaining 35 cases [25.9%]. The most common symptom in injured eyes was mucoid or mucopurulent discharge [71%]. Common complications in 101 subjects with previous operations were superior sulcus deformity [72.3%] and socket contracture [44.5%]. Socket motility was satisfactory only in 18%. All signs of the anophthalmic syndrome are more severe and more prevalent among enucleated cases secondary to war injuries. Due to the rarity of sympathetic ophthalmia, we suggest enucleation and orbital implantation in an elective setting

Abnormal Cambridge low-contrast grating sensitivity results associated with diabetic retinopathy as a potential screening tool

Contrast sensitivity is proposed as a potential screening tool for the early detection of diabetic retinopathy. A cross-sectional study was performed in a tertiary referral university eye centre. A total of 80 diabetes patients were recruited and tests were performed on 154 eyes. Contrast sensitivity was checked using Cambridge low-contrast grating. Abnormal contrast sensitivity was observed in 27.1% of eyes with diabetic retinopathy, compared with 9.0% in unaffected eyes, a statistically significant difference. Cambridge low-contrast grating is a potential screening tool for early detection of diabetic retinopathy by non-ophthalmologistsp

[Partial agenesis of inferior rectus muscle: a case report]

To report a case of partial agenesis of the inferior rectus muscle in a child who was presented because of ocular misalignment and a deficient depression of the right eye. The patient was a 4-year-old girl. Preoperative CT scans confirmed the clinical diagnosis of inferior rectus agenesis. The patient underwent augmented transposition of horizontal recti muscles with good post-operative results. Congenital absence of the inferior rectus muscle is a possible cause of inferior rectus muscle palsy. Although rare, agenesis deserves attention in the absence of another identifiable causes for inferior rectus palsy. Muscle transposition procedures in conjunction with intramuscular botulinium toxin injection or other weakening procedures of the superior rectus muscle have had appreciable functional and cosmetic results in these patients

Severe photophobia in a teenager with APECED syndrome

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy [APECED] syndrome is a rare, but well-known cause of chronic keratoconjunctivitis with early onset. Patient: A 15 year-old boy with APECED syndrome, who was referred to our hospital because of intense photophobia and blepharospasm. On clinical examination the patient had severe keratitis accompanied by iridocyclitis. The patient showed dramatic response to topical corticosteroids and cycloplegics. Chronic bilateral keratitis is an ocular manifestation of APECED. When an ophthalmologist is confronted with a young child or adolescent and bilateral chronic keratitis with symptoms of intense photophobia, blepharospasm, lacrimation and either with mucocutaneous candidiasis or hypoparathyroidism, APECED is a disease of consideration and appropriate investigation should be done