Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report.

BACKGROUND: We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD). CASE PRESENTATION: A 26-year-old white woman, born at term by natural delivery presented with a post-natal diagnosis of GSD Ia. Genetic testing by array-comparative genomic hybridization (CGH) for DGS was required because of her low levels of serum calcium. The patient has been followed from birth, attending the day-hospital every six months at the San Paolo Hospital, Milan, outpatient clinic for metabolic diseases and previously at another eye center. During the last day-hospital visit, a complete eye examination showed ONHD and cataract in both eyes. Next Generation Sequencing (NGS) was subsequently done to check for any association between the eye problems and metabolic aspects. CONCLUSIONS: This is the first description of ocular changes in a patient with GSD Ia and DGS. Mutations explaining GSD Ia and DGS were found but no specific causative mutation for cataract and ONHD. The metabolic etiology of her lens changes is known, whereas the pathogenesis of ONHD is not clear. Although the presence of cataract and ONHD could be a coincidence; the case reported could suggest that hypocalcemia due to DGS could be the common biochemical pathway.

Retinal pigment epithelial marginal retraction after photodynamic therapy for choroidal neovascularization in pathologic myopia.

PURPOSE: To report the incidence of retinal pigment epithelial (RPE) marginal retraction after verteporfin photodynamic therapy (PDT) for subfoveal choroidal neovascularization (CNV) in pathologic myopia (PM). METHODS: Retrospective review of 236 patients treated with PDT for subfoveal CNV due to PM. RESULTS: RPE marginal retraction was found in 3 eyes (1.3%), and a decrease of a mean of five lines of vision was reported to occur 10-15 days after treatment. At the end of followup two eyes lost three lines and one six lines from baseline. CONCLUSIONS: RPE marginal retraction as an early complication of PDT for subfoveal CNV secondary to PM is rare. The low incidence of this adverse event, however, should not preclude recommendations for PDT in myopic eyes that could benefit from this treatment modality.

Observation or surgical excision of bilateral subfoveal choroidal neovascularization in Best disease.

The purpose of this article is to describe a case of bilateral neovascularization complicating Best Disease. A 12-year-old patient with bilateral neovascularization was managed with observation in the right eye and surgical removal in the other eye. Visual acuity, biomicroscopy and fluorangiography were carried out from 1997 to 2005. The right eye did not experience any change in visual acuity from baseline (20/50) while left eye varied from 20/200 to 20/32. Macular exudative-hemorrhagic manifestations resolved bilaterally. Eight years later, VA and retinal findings were unchanged. In this case, although VA was reasonably good in both eyes, it is difficult to assess the prognosis of surgically excised neovascularization vs natural history, also considering that nowadays photodynamic therapy and antiangiogenetic drugs are considered the therapy of choice in subfoveal neovascularization.

Odontogenic orbital cellulitis associated with cavernous sinus thrombosis and pulmonary embolism: a case report.

BACKGROUND: This case illustrates the importance of prompt assessment and treatment of orbital cellulitis. In fact the ocular signs and symptoms may be associated with systemic complications which should be investigated and identified as soon as possible to avoid a poor prognosis. CASE PRESENTATION: A 46-year-old white woman presented to our emergency room with proptosis, ophthalmoplegia, and conjunctival chemosis of her left eye. An ophthalmologist, having diagnosed orbital cellulitis in her left eye, suspected a cavernous sinus thrombosis. Hematochemical and radiological examinations confirmed the cavernous sinus thrombosis and also showed septic pulmonary embolism. A blood culture indicated Streptococcus constellatus, which is a member of the Peptostreptococcus family, a saprophyte of the oral mucosa that can be pathogenic in immunocompromised persons. The odontogenic origin was then confirmed by dental radiography which showed a maxillary abscess. Her eye signs regressed after antibiotic and anticoagulant therapy. CONCLUSIONS: This complex case shows the importance of a multidisciplinary approach for the management of orbital cellulitis, for the prompt diagnosis and treatment of eye injuries and possible complications, so as to avoid serious and permanent sequelae.

Quality of vision: A consensus building initiative for a new ophthalmologic concept.

PURPOSE: Many studies have addressed the quantification of visual acuity, and the conventional method of measuring it has so far demonstrated serious limitations. Vision testing requires new methods that can more precisely express the quality of vision as perceived by the patient. METHODS: This study employed the Delphi method of consensus building. Concepts associated with quality of vision (QoV) were identified by a board of experts and proposed to participating specialists in two subsequent questionnaires. Upon receipt of the completed questionnaires, the replies were classified to determine the building blocks of a consensus. RESULTS: By analyzing the replies to the two questionnaires, the authors determined the key elements of QoV on which a consensus was found among the respondents. CONCLUSIONS: A consensus was reached on the opinion that the quantification of visual acuity by traditional means is inadequate for investigating QoV. Although visual acuity is still a basic element for testing, the experts believe that contrast sensitivity, reading speed, and microperimetry are additional parameters necessary for quantifying QoV. The use of a psychometric questionnaire on visual function could allow a better interpretation of visual impairment.

Fluorescein angiography and indocyanine green angiography for identifying occult choroidal neovascularization in age-related macular degeneration.

PURPOSE: To assess whether fluorescein angiography (FA) alone without indocyanine green angiography (ICGA) can identify and localize occult choroidal neovascularization (CNV) in age-related macular degeneration (ARMD). METHODS: Seventy-nine eyes of 77 consecutive patients with occult CNV were evaluated independently by two skilled physicians at first with FA alone and then with FA combined with ICGA by fundus camera. RESULTS: The agreement between FA and ICGA was 73% and 68% for the two physicians (K=0.585 and 0.512, respectively). The first operator correctly identified 20/27 as plaque CNV; six had different sizes and locations. The second operator identified 25/30, with one mistaken for size and location. For focal CNV the first operator identified 34/39, and the second one 23/35. CONCLUSIONS: Comparing the FA results with ICGA, CNV was correctly identified in about 60% of cases. Therefore, ICGA should be considered an indispensable diagnostic test to identify the presence, the type, and the location of occult CNV.

Indocyanine green angiography of well-defined plaque choroidal neovascularization in age-related macular degeneration.

OBJECTIVE: To determine the natural course of well-defined plaque choroidal neovascularization (CNV) using indocyanine green angiography. METHODS: Two ophthalmologists, experts in macular diseases and indocyanine green angiography, examined 40 eyes with exudative age-related macular degeneration and a well-defined plaque CNV using complete ophthalmoscopic evaluation, fluorescein angiography, and indocyanine green angiography. The increase in the size of the plaques was analyzed using multivariate analysis, in relation to the worsening of visual acuity, with adjustment for age, sex, and length of follow-up. RESULTS: Mean follow-up was 13.5 months (median, 11 months). Initial and final mean visual acuity were 20/46 (median, 20/50) and 20/65 (median, 20/100), respectively. The mean initial size of the plaque was 6.62 mm2 (median, 6.20 mm2), and the mean final size was 10.40 mm2 (median, 9.76 mm2). The enlargement was statistically significant (P<.001). CONCLUSIONS: We found that plaque CNV tends to become larger with time, the enlargement reaching about 40% in 1 year of follow-up. The resulting loss of visual acuity, however, is not significant, and is slightly correlated with the extension of the lesion; it also does not appear to be directly related to sex.

Indocyanine green angiography in enlarged blind spot syndrome.

PURPOSE: To report the indocyanine green angiography findings in a case of acute idiopathic blind spot enlargement syndrome. METHOD: The patient underwent ophthalmologic examination with fluorescein angiography and indocyanine green angiography. RESULTS: A monocular enlarged blind spot was found on automated perimetry; fluorescein angiography showed a hypofluorescent peripapillary atrophic area and indocyanine green angiography highlighted diffuse, small hypofluorescent spots scattered throughout the posterior pole. Visual field defects and indocyanine green angiography abnormalities resolved over 4 weeks. CONCLUSION: Indocyanine green angiography in acute idiopathic blind spot enlargement syndrome showed many lesions not visible with fluorescein angiography, indicating a choroidal involvement reaching not only the peripapillary area but the entire posterior pole.

Chorioretinal involvement in primary systemic nonfamilial amyloidosis.

PURPOSE: To report a case of primary systemic nonfamilial amyloidosis studied by fluorescein angiography and indocyanine green angiography. METHODS: Case report. A 59-year-old woman with primary systemic nonfamilial amyloidosis presented bilateral diffuse deep hemorrhages and pigmentary mottling at the posterior pole. RESULTS: On fluorescein angiography bilateral diffuse areas of hypofluorescence were present. Indocyanine green angiography showed large hypofluorescent areas with hypofluorescent lines in the midperiphery and hyperfluorescent streaks in the peripapillary area. CONCLUSIONS: In this case of primary systemic nonfamilial amyloidosis, diffuse bilateral chorioretinal abnormalities included hemorrhages and pigmentary mottling at the posterior pole, with hypofluorescent areas on fluorescein angiography and indocyanine green angiography, as well as hypofluorescent lines in the midperiphery.

Age-related macular degeneration and vitreous hemorrhage.

Age-related macular degeneration led to vitreous hemorrhage (VH) in six eyes of four patients. Macular involvement was bilateral in three patients and fluorescein angiography performed before VH showed extensive subretinal hemorrhage in the macular region in all eyes. We examine the possible causal mechanisms of VH resulting from age-related macular degeneration. Local risk factors, as outlined in our series by fluorescein angiography, are discussed and systemic risk factors are considered. Three out of the six eyes underwent pars plana vitrectomy for removal of intravitreal blood, and had severe inflammatory reactions in the postoperative period. In the three non-operated eyes spontaneous reabsorption of VH was observed at the end of follow-up.

Indocyanine green angiography (ICGA) in pathological myopia.

One hundred and fifty patients (300 eyes), mean age 49 +/- 15 years, with degenerative myopia underwent fluorescein and indocyanine green angiography (ICGA). Fluorescence of choroidal neovascularization (CNV) on ICGA was less evident than with fluorescein angiography (FA). FA revealed CNV in 98 eyes; ICGA showed CNV with different angiographic patterns in 82 eyes. ICGA permitted CNV diagnosis when retinal hemorrhages were present. ICGA allowed a more precise evaluation of lacquer cracks which appeared more numerous than the ones identified by FA. ICGA visualized the retrobulbar vasculature. This study shows that ICGA has a useful role for diagnosing and managing pathological myopia.

[Idiopathic macular retinoschisis in the young subject associated with preretinal and prepapillary neovessels]. / Rétinoschisis maculaire idiopathique du sujet jeune associé à des néovaisseaux prérétiniens et prépapillaires.

Idiopathic juvenile retinoschisis is a sex-linked disease, which generally involves the macula and the retinal periphery in 50% of cases. The authors report a case of juvenile retinoschisis in which the central schisis was associated with wide non-perfused retinal areas causing the growth of retinal and epipapillary neovascularizations in one eye. The new vessels produced an intravitreal hemorrhage. The arising of non-perfused retinal areas is probably determined by capillary insufficiency secondary to the alteration of its vascular trophism due to the retinal detachment. This may cause a break of the blood-retinal barrier with subsequent capillary occlusions. We performed laser photocoagulation of the non-perfused areas, and complete regression of the neovascularization was obtained.

[Laser treatment of subretinal macular neovascularization in pathologic myopia]. / Traitement laser de la néovascularisation sous-rétinienne maculaire dans la myopie forte.

The authors evaluated retrospectively 100 eyes with pathological myopia and a macular subretinal neovascular membranes (SRNV) which was treated with direct laser photocoagulation. Argon green, krypton red and orange dye (590 nm) laser were used to treat, respectively, 19, 63 and 18 eyes. The follow-up period was of 12 months. Mean initial visual acuity was 0.33 and mean final visual acuity was 0.31, with no statistically significative difference between them. One or more recurrence was observed in 44% of the eyes. Recurrences could be treated in 80% of cases. At the end of the follow-up period SRNV had disappeared in 83 eyes and extended into the foveola in the remaining 17.

[Degenerative myopia: recurrence of subretinal neovessels after laser photocoagulation]. / Myopie dégénérative: récidives de néovaisseaux sous-rétiniens après photocoagulation au laser.

Macular subretinal neovascularization is one of the most important causes of impaired vision in eyes affected by pathologic myopia. Results of studies concerning the natural history of subretinal neovascularization are inconclusive and contradictory. Like in other macular degenerations, laser photocoagulation could be useful in treating neovascular membranes. Available results indicate that laser treatment can reduce the risk of severe visual loss. However recurrent neovascularization may complicate laser treatment with further visual loss. The authors have reviewed the records of 98 eyes affected by pathologic myopia (axial length à 26.5 mm) and macular subretinal neovascularization that underwent laser photocoagulation. 41 eyes (42%) developed one or more recurrences during a 12 months follow-up period. No relationship was found between sex, age, axial length, distance from the center of the foveal avascular zone or size of neovascular membrane, and recurrence rate. Eyes that experienced recurrences had a final visual acuity significantly worse than the others (p = 0.02). 65% of recurrences was observed in the first 3 months after treatment. 67% of such neovascularizations was located at the foveal side of the laser scar. These data underscore the necessity for close, careful follow-up of all patients who have undergone treatment of a subretinal neovascularization.

[Juvenile serous macular detachment of the pigmented epithelium]. / Le décollement séreux maculaire juvénile de l'épithélium pigmentaire.

Juvenile macular detachment of the retinal pigmented epithelium is rarely seen clinically. Single or multiple detachments can occur and are due to the accumulation of liquid in the subretinal space. The natural history of the disease, which usually affects young people, has not yet been defined. We examined and followed 19 eyes of 15 patients affected by macular juvenile serous detachment of the retinal pigment epithelium, not associated with other retinal disturbances. The patients were followed for a mean period of 12 months (range 6-33 months). The mean age was 48 years (range 40-59 years): 7 patients were male and 8 female. Mean initial visual acuity was 8/10 (range 1/10-10/10) and mean final visual acuity was 9.2/10 (range 6/10-10/10). Detachment of the retinal pigmented epithelium was unchanged in 58% of cases, decreased or disappeared in 37% of cases and increased in 5% of cases. These results indicate that the natural course is usually good and photocoagulation is not necessary.

[Hyperplastic primary vitreous with persistent hyaloid artery in 2 non-twin brothers]. / Vitré primitif hyperplasique avec persistance de l'artère hyaloïde, chez deux frères non jumeaux.

The authors describe the case of two brothers afflicted with persistent anterior hyperplasic primary vitreous and hyaloid artery. The occurrence of combination in two members of the same family is unusual, also moreover one of the patients was affected by macular retinoschisis. The two cases were clinically different; the first was typical, complicated by cataract; the second presented alterations mostly located in the posterior vitreous. In one eye fluorescein angiography showed a very slow and delayed filling of the hyaloid artery. Blood flow was directed from its anterior portion towards the optic disk. Nd: YAG laser photoresection of the hyaloid artery, performed in order to obtain a better visualization of the macula did not lead to remarkable hemorrhages. In an other eye fluorescein angiography could be performed after Nd: YAG laser photoresection of a vitreous membrane located in front of the posterior pole: remnants of the hyaloid vascular system with retrograde blood filling were present also in this case. The mechanisms leading to this reverse filling of the vessels are discussed.

[Laser treatment of macular subretinal neovascularization in angioid streaks]. / Photocoagulation au laser des néovaisseaux sous-rétiniens maculaires survenant au cours des stries angioïdes.

The authors examined 17 eyes with macular subretinal neovascularization in angioid streaks treated by direct laser photocoagulation. Two eyes were treated with dye laser (590 nm), two with blue-green argon, three with green argon and ten with red krypton laser. At twelve-month follow-up, the visual acuity was of 0.21, a statistically significant decrease respect to the presenting vision. Poor functional results are due to the frequent recurrences of neovascularization.

[Fetal uropathies: anatomo-pathologic background]. / Uropatie in età fetale: inquadramento anatomo-patologico.

The kidney malformations are complex anatomo-clinical entities that can be described with different classification approaches, based on morphological or etiopathogenetic criteria. The most serious fetal uropathies can be associated with the oligohydramnios sequence, due to insufficient urine escretion, related, for example to bilateral renal agenesis. A second malformation sequence can also be present, the so-called prune belly syndrome, in which an early urethral obstruction can produce abnormal bladder distension and finally renal dysplasia and globous dilation of the abdomen. The anatomo-pathological experience of the last ten years in the Institute of Pathological Anatomy of the University of Bari is based upon 154 cases of congenital uropathies in second trimester fetuses. Almost 80% of these cases presented also other associated anomalies, both chromosomal and non chromosomal syndromic or in casual combination. The possible echographic recognition of these pathologies, together with genetic and anatomopathological studies allow to categorize the fetal uropathies in two groups: the first characterized by an early or late obstruction of the urinary tract, in "sensu strictu" the true obstructive uropathies, and the second, formed by different morphologies all genetically determined.