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07 DePool Final 11 9 01 9 10 AM Page 90,DePool et al. ance to the macular area and absence of macular reflex ined the patient at age 11 months Her fixation had. The patient was last examined at the age of 17 years At become central and was not steady but maintained There. that time visual acuities were 20 60 and 20 70 and was a poor foveal reflex in each eye with pigment migra. retinoscopic findings were 2 25 1 25 x 60 and 4 25 tion in the macular area and a dropout of normal struc. 1 00 x 90 Figs 1A and 1B tures in the peripheral retina temporal to fixation. Retinoscopic findings were 2 50 and 11 50 When, CASE 2 examined at 2 years of age her visual acuity was 3 30 to. the Allen cards in each eye Refraction was 11 75 1 75. The patient was first examined shortly after birth when. x 85 and 13 00 1 50 x 85 Fundus evaluation showed, she was given a diagnosis of Leber s congenital amaurosis. continued coarse retinal pigment epithelial changes and a. Results of an ERG performed by us were normal The,poor foveal reflex in each eye. patient had a hypoplastic macular reflex in the right eye. and an ateliotic macula on the left Amblyopia therapy. CASES 4 AND 5, was instituted At the age of 2 years her acuities were fix.
and follow in each eye with continued preference of fixa. These patients the female children of healthy first cousin. tion of the right eye The appearance of the macula had. Egyptian parents were examined at 2 1 2 and 1 1 2 years of. not worsened in the left eye and was judged to be normal. age on account of markedly reduced visual acuity since. in the right Figs 2A and 2B, birth The older sibling had a retinal detachment with a. CASE 3 detached macula in the right eye Refractive error in the. left eye was 11 50 Bilateral atrophic patches were seen in. At examination at the age of 2 months the patient would the macular area The patient underwent a retinal. blink to light with both eyes She had roving eye move detachment procedure to the right eye Her younger sis. ments Acuity was light perception only We first exam ter had nystagmus and bilateral atrophic patches in the. FIGURE 1A FIGURE 1B, Case 1 Right eye of patient with macular staphyloma OU Case 1 Left eye of patient with macular staphyloma OU. FIGURE 2A FIGURE 2B, Case 2 Right eye of patient with asymmetric ateliotic macula Case 2 Left eye of patient with asymmetric ateliotic macula. 07 DePool Final 11 9 01 9 10 AM Page 91, The Ateliotic Macula a newly recognized developmental anomaly. macular area Retinoscopic findings were 13 50 5 00 x onset The disease was stationary and did not show pro. 110 and 11 50 2 00 x 80 gressive degenerative changes rather a slow improve. ment in visual function was observed in most patients. Visual acuity ranged from normal to light perception. At age 9 days the patient was noted to have a corneal opac only The macula was characterized by a bull s eye appear. ity on the right He underwent examination under anes ance to diffuse atrophic changes involving the whole pos. thesia elsewhere At that time intraocular tension was terior pole There was excess visibility of the choroidal pat. normal in both eyes and no iridocorneal adhesions were tern with atrophy of the choriocapillaris and mild pigment. noted We began following the patient s clinical course migration in several of the affected patients Color vision. when he was 3 weeks old At 2 years of age intraocular was affected The refractive errors showed mild to very. pressure increased and treatment with Timoptic was high myopia anisometropia was common One patient. begun Torch titers were negative and a karyotype was with high myopia was observed to have a retinal detach. normal His gait was broad based He developed grand ment at age 2 1 2 years In this patient no findings were. mal seizures and a magnetic resonance imaging scan was suggestive of the Stickler or Knobloch syndromes. performed He was found to have hypoplasia of the cere Collagen XVIII the gene involved in the Knobloch. bellar vermis and a diagnosis of Joubert s syndrome was syndrome was studied in all patients No abnormality was. made Refractive errors were 4 50 5 00 x 135 and 14 50 found In 1 patient fluorescein angiography showed a. 3 50 x 175 He had macular changes on the right that bull s eye appearance in the right eye with a visual acuity. showed a bull s eye appearance with pigment migration of 20 20 and diffuse pigment displacement in the fellow. He had a pit of the right optic nerve which was tilted In eye with a visual acuity of light perception only Results. the left eye involvement of the macular area was more sig of scanning laser ophthalmoscopy were normal in the. nificant with large areas of depigmentation and rarefica right eye in spite of the bull s eye appearance The retinal. tion and hypoplasia of small choroidal vessels thickness was at the lower limit of normal An ERG. Electroretinography revealed scotopic and photopic showed a low normal response to the photopic flicker in. responses Visual acuities at age 3 years were 5 30 and the eye with normal acuity and 1 3 normal response in the. 1 30 with Allen cards Figs 3A 3B and 3C fellow eye which also had a reduction in rod response. Patients showed a markedly reduced cone response, CASE 7 and a variable reduction in rod response Fundus appear.
ance of the patients with high myopia was characterized by. The patient was first examined at age 6 months when he. a disorganized macular area resembling the fundus appear. had central steady and maintained fixation in the right. ance seen in patients with the Knobloch syndrome There. eye There was no obvious nystagmus The anterior seg. was a primordial appearance suggesting the term ateliotic. ment on the right was normal and an eccentric minute. macula Ateliotic is derived from the Greek telos meaning. pupillary opening measuring less than 1 mm was present. end or goal, on the left An optical iridectomy was performed The. patient had a mild hypermetropic refractive error with. anisometropia He had bilateral macular changes consist DISCUSSION. ing of a bull s eye appearance He was lost to follow up. until the age of 18 years At that time his visual acuities A large family with high myopia and a congenital macular. measured 20 20 in the right eye and finger counting in anomaly was observed at St John s Hospital in Jerusalem. the left Retinoscopic findings were plano in the right eye by Iqbal and Jalili 1 The parents were first cousins and. and 11 50 7 00 x 130 in the left No improvement was the mode of inheritance was clearly autosomal recessive. seen on manifest refraction A fluorescein angiogram on A similar though smaller family with recessive high. the right showed a bull s eye maculopathy Results of an myopia and macular changes is now being described by. indocyanine green study were normal in both eyes us The family originated from Upper Egypt patients 4. Findings on scanning laser ophthalmoscopy and focal and 5 All other patients were identified and evaluated. ERG were normal as well Figs 4A 4B and 4C here in the United States They were all isolated cases. and no definite identification of the mode of inheritance. RESULTS could be established Both sexes were equally involved. Two patients had anterior segment malformations The. The age and sex of the 7 patients in the study population are patient with unilateral partial corneal opacities had better. summarized in Table I All cases of ateliotic macula were retinal function in the affected eye All patients had. bilateral with significant variation in severity of the disease normal intelligence and no other systemic abnormalities. in the 2 eyes Disease was characterized by congenital were noted except for 1 patient who had complex. 07 DePool Final 11 9 01 9 10 AM Page 92,DePool et al. FIGURE 3A FIGURE 3B, Case 6 Anterior segment with Peters anomaly Case 6 Right macular hypoplasia. FIGURE 3C FIGURE 4A, Case 6 Left macular pigment migration Case 7 Left congenital malformation of the iris Arrow indicates pupillary. FIGURE 4B FIGURE 4C, Case 7 Right ateliotic macula with normal visual acuity Case 7 Ill defined macula with pigment migration and chorioretinal atrophy.
malformations including hypoplasia of the vermis and an centers without receiving diagnostic confirmation or prog. unexplained seizure disorder nostic assessment Classification certainly should serve the. A variable macular phenotype of congenital onset with purpose of defining unique prognostic entities It should. early poor visual acuity and an amorphic appearance to the similarly define entities that will benefit from the same. macula is described Parents typically consult in multiple treatment approach The classification of patients under the. 07 DePool Final 11 9 01 9 10 AM Page 93, The Ateliotic Macula a newly recognized developmental anomaly. PATIENT AGE SEX ACUITY REFRACTION ANTERIOR SEGMENT FUNDUS ERG. 1 17 yr M 20 60 2 25 1 25 x 60 Normal Macular lesions OU Normal scotopic mildly. 20 70 4 25 1 00 x 89 reduced photopic, 2 7 mo F F F OU 1 50 1 50 x 65 Normal Macular pigment Normal for age. Prefers OS 1 00 1 50 x 90 changes OD ateliotic, 3 3 yr F CSM OU 1 75 1 75 x 85 Normal Poor foveal reflexes Present scotopic and. 13 00 1 50 x 85 chorioretinal dropout photopic responses OU. lesions temporal,to fixation, 4 2 1 2 yr F Poor OS 11 50 sph Normal Retinal Detachment. OD colobomatous, 5 1 1 2 yr F Poor 13 50 5 00 x 1 10 Normal Abnormal macula.
11 50 2 00 x 80 myopic fundus OU, 6 3 yr M 5 30 Poor 6 50 Peters anomoly Macular lesion OU Decreased scotopic. fixation 16 50 and photopic,amplitudes, 7 18 yr M 20 20 LP Plano Microcoria s p Atrophic macular Decreased photopic. 11 50 7 00 x 130 sx OS area OU amplitude OS,CSM F F fix and follow LP light perception. heading of ateliotic macula appears justified because they the macula beyond hypoplastic macula which defines. are united by the observation that the visual outcome absence of fine modeling of the macula. appears much better than originally anticipated The sub. CONCLUSION, group of patients with high myopia had the most primordial. looking macula Their prognosis was also worse because of. The understanding of developmental anomalies of the. the development of a retinal detachment It is unclear. macula is integral to the understanding of cone function. whether ocular findings in patients are worsened by their. for potential repair and treatment Large pedigrees need. myopia or whether a separate gene defect is responsible for. to be identified in order to isolate the genes responsible. the families combining macular dysplasia and high myopia. for the developmental disorders Many patients present. The studies by Anita Hendrickson and coworkers2 4 have. as isolated cases and the prognosis and risk for recurrence. shown that the retinal photoreceptors develop in a cen. need to be assessed on an individual basis once the genes. trifugal fashion with the origin in the macular area. have been identified a more accurate mutation based. The genes involved in development of the fovea,assessment will become possible.
remain largely unexplored Mutations in the CRX gene. are known to cause a congenital anomaly of the macula REFERENCES. This gene has not been analyzed in these patients The. large Palestinian family with autosomal recessive inheri 1 Iqbal M Jalili IK Congenital onset central chorioretinal dystro. tance should prove sufficiently large for successful linkage phy associated with high myopia Eye 1998 12 260 265. 2 Sears S Erickson A Hendrickson A The spatial and temporal. analysis and gene search All isolated patients are proba. expression of outer segment proteins during developmental of. bly best analyzed once mutation specific diagnostic Macaca monkey cones Invest Ophthalmol Vis Sci 2000 41 5 971. microchip analysis is possible 979, Certainly previously named conditions such as North 3 Xiao M Hendrickson A Spatial and temporal expression of short. long medium or both opsins in human fetal cones J Comp Neurol. Carolina macular degeneration progressive bifocal chori. 2000 425 4 545 559, oretinal dystrophy and Sorsby syndrome5 are in the path 4 Milam AH Hendrickson AE Xiao M et al Localization of tubby. way of development of the macula Several patients seen like protein 1 in developing and adult human retinas Invest. here had features reminiscent of the Knobloch syndrome 6 Ophthalmol Vis Sci 2000 41 8 2352 2356. 5 Sorsby A Congenital coloboma of the macula together with an. No mutations were found in sequencing of that gene. account of the familial occurrence of bilateral macular coloboma in. Understanding of the genes involved in macular association with apical dystrophy of hands and feet Br J. development may become essential to treatment of Ophthalmol 1935 19 65 87. macular degeneration in the elderly It seems justified to 6 Cook GR Knobloch WH Autosomal recessive vitreoretinopathy. and encephaloceles Am J Ophthalmol 1982 94 18 25, create a new term to define developmental disorders of. 07 DePool Final 11 9 01 9 10 AM Page 94,DePool et al. DISCUSSION REFERENCES, DR C P WILKINSON Drs Maumenee De Pool and El 1 Dorland s Illustrated Medical Dictionary 1981 Philadelphia W.
Hileli have described 7 patients with apparent macular B Saunders p 133. 2 Curran RE Robb RM Isolated foveal hypoplasia Arch. hypoplasia myopia and additional isolated findings They Ophthalmol 1976 94 48 50. have employed the term ateliotic to refer to the macular 3 Knobloch W Layer I Retinal detachment and encephalocele J. changes that were present in these cases They have Pediatr Ophthalmol 1971 8 181 184. demonstrated that these eyes were not associated with 4 Sertie AL Quimby M Moreira ES et al A gene which causes. ocular alterations and occipital encephalocele Knobloch syn. genetic abnormalities characteristic of the Knobloch syn. drome is mapped to 21q22 3 Hum Mol Genet 1996 5 843 847. drome It is difficult to know if the ERG changes are con. sistent with high myopia or if they are representative of. DR RICHARD A LEWIS I too was struck by the selection. more severe diffuse retinal disease, of the title and description of the ateliotic macula in. The term ateliotic is defined in Dorland s medical. part for the substitution of the more common macular. dictionary1 as characterized by incomplete or imperfect. hypoplasia in part for the adjectival prefix and in part for. development This term seems to me to be consistent. the complexity of the admixture of Greek and Latin terms. with the terms dysplastic and hypoplastic Regardless. Hypoplasia is the fusion of the Greek preposition, of the precise wording that is employed these macular. hupo or hypo meaning under or less than and, changes are seen in a variety of syndromes including sys. the noun plasis the root noun for molding, temic and ocular albinism Knobloch syndrome aniridia. shaping or conformation from which we derive plasma. PHPV and incontinentia pigmenti The findings also, plaster and plastic and thereby growth thus defective.
occur unassociated with apparent additional ocular or sys. formation or incomplete development of a part, temic problems For instance in 1976 Curran and Robb2. Historically hypoplasia has been applied to the failure to. described 9 patients with hypoplastic maculas and con. differentiate a normal fovea ophthalmoscopically confined. genital nystagmus and two thirds of the patients were. as the area of thickened retina confined by the elliptical. myopic No additional problems were identified, foveal light reflex on the internal limiting membrane at the. The Knobloch syndrome named in honor of our own, base of the slope of the thinning neuroepithelium and cen. member Bill Knobloch was first described in 1971 3. tered on the umbo and classically associated with less than. Subsequently additional findings have been added to the. normal vision as in the albinisms aniridia and the like. syndrome and most importantly the site of the genetic. The macula is a larger ophthalmoscopic region con,defect has been identified 4. fined by the major temporal vascular arcades centered on. Regarding the 7 cases presented this morning the, the umbo and extending temporally the same chord dis.
precise category in which they belong is unclear These. tance as in the umbo from the temporal edge of the sclero. obviously are not 7 examples of a similar macular mor. choroidal rim Macula is the Latin diminutive of macus. phology Some appear to be similar to several of the cases. meaning area or spot thus macula is the little spot. described many years ago by Curran and Robb whereas. Ateliotic is derived from the Greek adjective, others do not appear to have classical hypoplasia of the. telos meaning far thus the prefix in com, macula but rather changes ranging from apparent scar. mon English words like telephone and television, ring at the level of the retinal pigment epithelium to an. ateles with the negative prefix roughly,albinoid appearance. the equivalent of our un thus means without end,I have 3 questions for the authors.
unaccomplished imperfect or incomplete and is the, 1 Why introduce the esoteric term ateliotic to replace. root for the scientific or medical term ateliosis adjecti. the more widely used words hypoplastic or dys,val form ateliotic meaning the incomplete develop. plastic when the latter terms have been used for,ment of the body or any of its parts. decades in referring to typical macular changes,However it may be unnecessary to invoke a com. 2 Were major Sticklers like vitreous changes observed. pound term for this failure of differentiation of the macu. in these cases An optically empty vitreous cavity,la as Dr Maumenee has described this phenotype In.
transversed by bands and sheets is frequently seen in. parallel to the derivation of Latin term the Greek noun. eyes predisposed to retinal detachment and many of. for place is topos the diminutive form, these patients have systemic disorders associated with. collagen production would be topion the small place thus the. 3 Finally why do the authors believe that these 7 macula Absence of or a failure to develop the macula. patients are particularly predisposed to retinal with purely Greek origin would be atopion.

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